Tafenoquine is a novel antimalarial drug being developed as a preventative treatment for malaria. It is in the same class as primaquine but is less toxic and longer acting, requiring only weekly dosing compared to primaquine's daily dosing. For patients with G6PD deficiency, an enzyme deficiency affecting 400 million people worldwide, tafenoquine's safety is still being evaluated as antimalarials in this class can cause hemolysis or breaking apart of red blood cells. The latest research indicates the parent compounds rather than metabolites may be responsible for toxicity, and further studies will explore tafenoquine's hemolytic effects in G6PD deficient patients.
This document provides information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses the discovery and function of the G6PD enzyme, describes how mutations in the G6PD gene cause the deficiency, outlines its inheritance as an X-linked recessive trait, and summarizes the clinical manifestations including favism and hemolytic anemia. It also covers diagnosis, classification of variants, frequency in different populations, and treatment approaches for acute hemolysis episodes.
Dr. S. Ismat Bukhari's document discusses G6PD deficiency, the most common enzyme deficiency worldwide. It affects over 200 million individuals, predominantly in areas like the Middle East, Africa, and Asia. G6PD deficiency is caused by mutations in the G6PD gene and results in inadequate protection of red blood cells from oxidative stress. This can lead to hemolysis, jaundice, and anemia, especially after exposure to oxidizing drugs or foods. The document outlines the inheritance, clinical manifestations, treatment, and screening of G6PD deficiency.
G6PD deficiency is a genetic disorder classified into 5 classes based on enzyme activity level, ranging from severe deficiency with less than 10% activity to increased enzyme activity. Management involves avoiding oxidative stressors that can trigger hemolysis like fava beans, certain drugs, and chemicals. For acute hemolysis episodes, treatment may include blood transfusions. The main approach is preventing oxidative stressors that can cause red blood cell breakdown in those with the condition.
G6PD deficiency is a defect in the G6PD enzyme, which provides protection against oxidative stress in red blood cells. It is an X-linked inherited condition, though female heterozygotes have some protection against malaria. Those with G6PD deficiency experience hemolytic anemia during times of oxidative stress caused by factors like infections, medications, or foods like fava beans. The deficiency results in inadequate levels of NADPH and glutathione, leaving red blood cells vulnerable to damage and hemolysis. Symptoms of the acute hemolytic anemia appear 24-48 hours after exposure to the triggering agent. Laboratory tests show signs of hemolysis and low G6PD enzyme activity. There is no cure or treatment other than
This document outlines the key points from a presentation on glucose-6-phosphate dehydrogenase (G6PD) deficiency. It begins with background information on G6PD and its function in protecting red blood cells from oxidative damage. It then discusses the epidemiology of G6PD deficiency and its association with reduced risk of severe malaria in endemic areas, particularly in African children. The document presents results from a case-control study in Mali finding that G6PD deficiency protects hemizygous males against severe malaria but does not protect heterozygous females.
G6PD deficiency is a common enzyme deficiency affecting approximately 400 million people worldwide. It is caused by mutations in the G6PD gene located on the X chromosome, making males more likely to be affected. G6PD deficiency results in hemolytic anemia when red blood cells are exposed to oxidative agents found in certain drugs or foods like fava beans. A complete blood count or screening test can diagnose G6PD deficiency by measuring enzyme activity levels in the blood. Current treatment involves avoiding triggers like fava beans and oxidative drugs that can cause hemolysis in G6PD deficient individuals.
This document discusses neonatal G6PD deficiency, including its epidemiology, pathogenesis, clinical presentation, diagnosis, and management. It notes that G6PD deficiency is one of the most common enzymopathies worldwide and an important cause of neonatal jaundice. The deficiency results in impaired antioxidant defense in red blood cells and can lead to hemolysis when exposed to oxidative stress. Timely diagnosis and avoiding triggering factors are important to prevent severe complications like kernicterus. Newborn screening programs have helped identify at-risk infants.
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
This document provides information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses the discovery and function of the G6PD enzyme, describes how mutations in the G6PD gene cause the deficiency, outlines its inheritance as an X-linked recessive trait, and summarizes the clinical manifestations including favism and hemolytic anemia. It also covers diagnosis, classification of variants, frequency in different populations, and treatment approaches for acute hemolysis episodes.
Dr. S. Ismat Bukhari's document discusses G6PD deficiency, the most common enzyme deficiency worldwide. It affects over 200 million individuals, predominantly in areas like the Middle East, Africa, and Asia. G6PD deficiency is caused by mutations in the G6PD gene and results in inadequate protection of red blood cells from oxidative stress. This can lead to hemolysis, jaundice, and anemia, especially after exposure to oxidizing drugs or foods. The document outlines the inheritance, clinical manifestations, treatment, and screening of G6PD deficiency.
G6PD deficiency is a genetic disorder classified into 5 classes based on enzyme activity level, ranging from severe deficiency with less than 10% activity to increased enzyme activity. Management involves avoiding oxidative stressors that can trigger hemolysis like fava beans, certain drugs, and chemicals. For acute hemolysis episodes, treatment may include blood transfusions. The main approach is preventing oxidative stressors that can cause red blood cell breakdown in those with the condition.
G6PD deficiency is a defect in the G6PD enzyme, which provides protection against oxidative stress in red blood cells. It is an X-linked inherited condition, though female heterozygotes have some protection against malaria. Those with G6PD deficiency experience hemolytic anemia during times of oxidative stress caused by factors like infections, medications, or foods like fava beans. The deficiency results in inadequate levels of NADPH and glutathione, leaving red blood cells vulnerable to damage and hemolysis. Symptoms of the acute hemolytic anemia appear 24-48 hours after exposure to the triggering agent. Laboratory tests show signs of hemolysis and low G6PD enzyme activity. There is no cure or treatment other than
This document outlines the key points from a presentation on glucose-6-phosphate dehydrogenase (G6PD) deficiency. It begins with background information on G6PD and its function in protecting red blood cells from oxidative damage. It then discusses the epidemiology of G6PD deficiency and its association with reduced risk of severe malaria in endemic areas, particularly in African children. The document presents results from a case-control study in Mali finding that G6PD deficiency protects hemizygous males against severe malaria but does not protect heterozygous females.
G6PD deficiency is a common enzyme deficiency affecting approximately 400 million people worldwide. It is caused by mutations in the G6PD gene located on the X chromosome, making males more likely to be affected. G6PD deficiency results in hemolytic anemia when red blood cells are exposed to oxidative agents found in certain drugs or foods like fava beans. A complete blood count or screening test can diagnose G6PD deficiency by measuring enzyme activity levels in the blood. Current treatment involves avoiding triggers like fava beans and oxidative drugs that can cause hemolysis in G6PD deficient individuals.
This document discusses neonatal G6PD deficiency, including its epidemiology, pathogenesis, clinical presentation, diagnosis, and management. It notes that G6PD deficiency is one of the most common enzymopathies worldwide and an important cause of neonatal jaundice. The deficiency results in impaired antioxidant defense in red blood cells and can lead to hemolysis when exposed to oxidative stress. Timely diagnosis and avoiding triggering factors are important to prevent severe complications like kernicterus. Newborn screening programs have helped identify at-risk infants.
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting over 200 million people worldwide.
2. G6PD deficiency results from mutations in the G6PD gene and causes decreased production of NADPH, leading to hemolytic anemia in response to oxidative stress.
3. Diagnosis is made through tests that measure G6PD enzyme activity levels in red blood cells, with deficiency diagnosed if levels are significantly decreased. Management focuses on avoiding triggers that cause hemolysis and blood transfusions in acute cases.
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses how G6PD is important for generating NADPH and reducing power in red blood cells. G6PD deficiency results in oxidative damage and hemolysis of red blood cells due to a lack of reducing equivalents. Clinical manifestations range from asymptomatic to acute hemolytic anemia triggered by oxidative drugs, infections, or fava beans. Diagnosis involves screening tests to detect low G6PD enzyme activity in red blood cells.
G6PD deficiency provides some protection against severe malaria. G6PD is an enzyme involved in red blood cell metabolism that protects against oxidative stress. G6PD deficiency is more common in populations where malaria is endemic. While G6PD deficiency may reduce the severity of malaria infections, it can also cause hemolysis if patients receive certain antimalarial treatments like primaquine or dapsone without first being screened for G6PD deficiency status. Proper screening is important to avoid potentially life-threatening hemolysis in G6PD deficient patients being treated for malaria.
Glucose-6-Phosphate Dehydrogenase Deficiency is an X-linked recessive disorder commonly seen in American black men that causes episodic hemolysis or breakdown of red blood cells in response to oxidant drugs or infections due to a deficiency in the G6PD enzyme. Between episodes, blood tests show reduced levels of G6PD and minimally abnormal results. Oxidized hemoglobin causes damage to red blood cell membranes, forming Heinz bodies that are removed by the spleen.
G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease and the most common enzyme-related hemolytic anemia.
2. G6PD deficiency results in increased breakdown of red blood cells due to oxidative damage when patients are exposed to certain drugs, infections, or fava beans.
3. The biochemical basis is that G6PD is needed to produce NADPH, which protects red blood cells from oxidative damage - without this protection, red blood cells rupture and hemolytic anemia occurs.
G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
- Individuals with G6PD deficiency do not show symptoms until exposed to oxidative stress, such as certain foods or medicines.
- G6PD is responsible for producing NADPH, which generates glutathione to protect red blood cells from damage by free radicals. In G6PD deficiency, insufficient NADPH leads to hemolysis upon exposure to oxidative stress.
- Diagnosis involves testing for G6PD enzyme activity levels, which are reduced in deficiency. Exposure to oxidative triggers can cause a hemolytic crisis characterized by dark urine and jaundice.
This document discusses glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia. It begins by explaining the pentose phosphate pathway and role of G6PD in producing the reducing agent NADPH. G6PD deficiency causes oxidative stress in red blood cells due to lack of NADPH, leading to hemolysis. Several factors can precipitate a hemolytic episode in G6PD deficient individuals, such as infections or ingestion of oxidizing drugs or fava beans. There are different classes of G6PD deficiency variants based on enzymatic stability and severity. Diagnosis involves blood tests to detect low G6PD enzymatic activity and identify genetic mutations.
This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. This enzyme protects red blood cells from oxidative damage. Those with the deficiency are at risk for hemolytic anemia when exposed to triggers like infections, certain foods or medications. Symptoms can include jaundice and fatigue. The deficiency provides some protection against malaria and is most common in those of African and Mediterranean descent. Management involves avoiding triggers and treating infections promptly.
G6PD Deficiency in Malaysia: the current situation - Narazah Mohd YusoffHuman Variome Project
The document discusses G6PD deficiency in Malaysia. It finds the prevalence is highest in Orang Asli (indigenous people) males at 11% and females at 7%. Nationwide neonatal screening began in 1980 and molecular studies found the most common mutations were Viangchan (871G>A) and Mahidol (487G>A). While diagnosis and treatment services exist, challenges remain in improving genetic counseling, establishing databases, and increasing international collaboration on research regarding pathogenesis and protective mechanisms against malaria.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder characterized by low levels of the G6PD enzyme. G6PD is involved in processing carbohydrates and protecting red blood cells from oxidative damage. Those with G6PD deficiency are at risk of hemolytic anemia when exposed to certain drugs and foods that cause oxidative stress. The deficiency has different classes of severity based on residual enzyme activity. Diagnosis involves testing for G6PD enzymatic activity and identifying gene mutations. Treatment focuses on managing anemia, while prevention involves avoiding triggers like certain drugs. The condition has a global distribution and mainly affects red blood cells.
Endocrine complications in Thalassemia major Sachin Sony
This document discusses various endocrine complications that can occur in patients with thalassemia major, including growth retardation, delayed puberty, hypogonadism, hypothyroidism, impaired carbohydrate metabolism, and osteoporosis. It provides details on the pathophysiology, investigations, and treatment for each complication. Growth retardation is common due to chronic anemia, iron overload, and chelation toxicity. Delayed puberty and hypogonadism can occur if pubertal development is not complete by ages 13-14. Hypothyroidism ranges from subclinical to overt. Impaired carbohydrate metabolism resembles type 2 diabetes and is treated with diet, insulin or oral hypoglycemic agents. Hypop
Haemoglobinopathies are genetic blood disorders caused by abnormalities in haemoglobin. Common types include beta-thalassaemia, alpha-thalassaemia, and sickle cell disease. The GP's role is to discuss carrier testing and investigate potential carriers through blood tests and refer those identified to specialist services. Carrier testing is recommended for individuals with risk factors like certain ethnicities or a family history. Blood tests can identify carriers but DNA testing is often needed to confirm carrier status, especially for alpha-thalassaemia. Management depends on the specific haemoglobinopathy but may include genetic counselling, monitoring, or treatment.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta chain of hemoglobin. This mutation causes red blood cells to take on a sickle, or crescent, shape under conditions of low oxygen, which can lead to pain, organ damage, and early death. It predominantly affects those of African descent and has a population prevalence of around 1/375 African Americans having sickle cell anemia. Common clinical signs and symptoms include anemia, pain crises, infections, and stroke. Treatment focuses on managing acute complications and pain. Glucose-6-phosphate dehydrogenase deficiency is another hemolytic anemia that predominantly affects males of African, Mediterranean, and Southeast Asian descent, causing red blood cell
This document provides information about thalassemia and pregnancy. It defines thalassemia as a genetic blood disorder characterized by reduced or absent globin chain synthesis. It discusses the types and incidence of thalassemia worldwide and in India. It outlines the approach to diagnosis including various blood tests. It covers the management of thalassemia during pregnancy including preconception care, antenatal care, intrapartum care, postpartum care and complications. The goal is to prevent the birth of children with thalassemia major through genetic counseling and screening of potential parents.
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyThe Medical Post
This document discusses hereditary spherocytosis and G6PD deficiency, two causes of hemolytic anemia. Hereditary spherocytosis is caused by a defect in the red blood cell membrane that results in spherical shaped red blood cells. G6PD deficiency results in hemolytic anemia during times of oxidative stress due to the lack of an enzyme, glucose-6-phosphate dehydrogenase, that protects red blood cells. The document describes the clinical presentations, treatments, and diagnostic testing for each condition.
The document summarizes key aspects of the hexose monophosphate pathway (HMP pathway or pentose phosphate pathway). It describes the pathway's location in the cytosol and key tissues where it is active. The oxidative and non-oxidative phases of the pathway and their reactions are outlined. Regulation of the pathway by NADPH concentration is mentioned. The significance of the pathway is that it generates pentoses and NADPH, which is important for biosynthesis and antioxidant reactions. Deficiencies in the pathway can cause hemolytic anemia.
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting over 200 million people worldwide.
2. G6PD deficiency results from mutations in the G6PD gene and causes decreased production of NADPH, leading to hemolytic anemia in response to oxidative stress.
3. Diagnosis is made through tests that measure G6PD enzyme activity levels in red blood cells, with deficiency diagnosed if levels are significantly decreased. Management focuses on avoiding triggers that cause hemolysis and blood transfusions in acute cases.
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses how G6PD is important for generating NADPH and reducing power in red blood cells. G6PD deficiency results in oxidative damage and hemolysis of red blood cells due to a lack of reducing equivalents. Clinical manifestations range from asymptomatic to acute hemolytic anemia triggered by oxidative drugs, infections, or fava beans. Diagnosis involves screening tests to detect low G6PD enzyme activity in red blood cells.
G6PD deficiency provides some protection against severe malaria. G6PD is an enzyme involved in red blood cell metabolism that protects against oxidative stress. G6PD deficiency is more common in populations where malaria is endemic. While G6PD deficiency may reduce the severity of malaria infections, it can also cause hemolysis if patients receive certain antimalarial treatments like primaquine or dapsone without first being screened for G6PD deficiency status. Proper screening is important to avoid potentially life-threatening hemolysis in G6PD deficient patients being treated for malaria.
Glucose-6-Phosphate Dehydrogenase Deficiency is an X-linked recessive disorder commonly seen in American black men that causes episodic hemolysis or breakdown of red blood cells in response to oxidant drugs or infections due to a deficiency in the G6PD enzyme. Between episodes, blood tests show reduced levels of G6PD and minimally abnormal results. Oxidized hemoglobin causes damage to red blood cell membranes, forming Heinz bodies that are removed by the spleen.
G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease and the most common enzyme-related hemolytic anemia.
2. G6PD deficiency results in increased breakdown of red blood cells due to oxidative damage when patients are exposed to certain drugs, infections, or fava beans.
3. The biochemical basis is that G6PD is needed to produce NADPH, which protects red blood cells from oxidative damage - without this protection, red blood cells rupture and hemolytic anemia occurs.
G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
- Individuals with G6PD deficiency do not show symptoms until exposed to oxidative stress, such as certain foods or medicines.
- G6PD is responsible for producing NADPH, which generates glutathione to protect red blood cells from damage by free radicals. In G6PD deficiency, insufficient NADPH leads to hemolysis upon exposure to oxidative stress.
- Diagnosis involves testing for G6PD enzyme activity levels, which are reduced in deficiency. Exposure to oxidative triggers can cause a hemolytic crisis characterized by dark urine and jaundice.
This document discusses glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia. It begins by explaining the pentose phosphate pathway and role of G6PD in producing the reducing agent NADPH. G6PD deficiency causes oxidative stress in red blood cells due to lack of NADPH, leading to hemolysis. Several factors can precipitate a hemolytic episode in G6PD deficient individuals, such as infections or ingestion of oxidizing drugs or fava beans. There are different classes of G6PD deficiency variants based on enzymatic stability and severity. Diagnosis involves blood tests to detect low G6PD enzymatic activity and identify genetic mutations.
This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. This enzyme protects red blood cells from oxidative damage. Those with the deficiency are at risk for hemolytic anemia when exposed to triggers like infections, certain foods or medications. Symptoms can include jaundice and fatigue. The deficiency provides some protection against malaria and is most common in those of African and Mediterranean descent. Management involves avoiding triggers and treating infections promptly.
G6PD Deficiency in Malaysia: the current situation - Narazah Mohd YusoffHuman Variome Project
The document discusses G6PD deficiency in Malaysia. It finds the prevalence is highest in Orang Asli (indigenous people) males at 11% and females at 7%. Nationwide neonatal screening began in 1980 and molecular studies found the most common mutations were Viangchan (871G>A) and Mahidol (487G>A). While diagnosis and treatment services exist, challenges remain in improving genetic counseling, establishing databases, and increasing international collaboration on research regarding pathogenesis and protective mechanisms against malaria.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder characterized by low levels of the G6PD enzyme. G6PD is involved in processing carbohydrates and protecting red blood cells from oxidative damage. Those with G6PD deficiency are at risk of hemolytic anemia when exposed to certain drugs and foods that cause oxidative stress. The deficiency has different classes of severity based on residual enzyme activity. Diagnosis involves testing for G6PD enzymatic activity and identifying gene mutations. Treatment focuses on managing anemia, while prevention involves avoiding triggers like certain drugs. The condition has a global distribution and mainly affects red blood cells.
Endocrine complications in Thalassemia major Sachin Sony
This document discusses various endocrine complications that can occur in patients with thalassemia major, including growth retardation, delayed puberty, hypogonadism, hypothyroidism, impaired carbohydrate metabolism, and osteoporosis. It provides details on the pathophysiology, investigations, and treatment for each complication. Growth retardation is common due to chronic anemia, iron overload, and chelation toxicity. Delayed puberty and hypogonadism can occur if pubertal development is not complete by ages 13-14. Hypothyroidism ranges from subclinical to overt. Impaired carbohydrate metabolism resembles type 2 diabetes and is treated with diet, insulin or oral hypoglycemic agents. Hypop
Haemoglobinopathies are genetic blood disorders caused by abnormalities in haemoglobin. Common types include beta-thalassaemia, alpha-thalassaemia, and sickle cell disease. The GP's role is to discuss carrier testing and investigate potential carriers through blood tests and refer those identified to specialist services. Carrier testing is recommended for individuals with risk factors like certain ethnicities or a family history. Blood tests can identify carriers but DNA testing is often needed to confirm carrier status, especially for alpha-thalassaemia. Management depends on the specific haemoglobinopathy but may include genetic counselling, monitoring, or treatment.
Sickle cell anemia is a genetic blood disorder caused by a mutation in the beta chain of hemoglobin. This mutation causes red blood cells to take on a sickle, or crescent, shape under conditions of low oxygen, which can lead to pain, organ damage, and early death. It predominantly affects those of African descent and has a population prevalence of around 1/375 African Americans having sickle cell anemia. Common clinical signs and symptoms include anemia, pain crises, infections, and stroke. Treatment focuses on managing acute complications and pain. Glucose-6-phosphate dehydrogenase deficiency is another hemolytic anemia that predominantly affects males of African, Mediterranean, and Southeast Asian descent, causing red blood cell
This document provides information about thalassemia and pregnancy. It defines thalassemia as a genetic blood disorder characterized by reduced or absent globin chain synthesis. It discusses the types and incidence of thalassemia worldwide and in India. It outlines the approach to diagnosis including various blood tests. It covers the management of thalassemia during pregnancy including preconception care, antenatal care, intrapartum care, postpartum care and complications. The goal is to prevent the birth of children with thalassemia major through genetic counseling and screening of potential parents.
Hemolytic anemia, Hereditary spherocytosis and G6PD deficiencyThe Medical Post
This document discusses hereditary spherocytosis and G6PD deficiency, two causes of hemolytic anemia. Hereditary spherocytosis is caused by a defect in the red blood cell membrane that results in spherical shaped red blood cells. G6PD deficiency results in hemolytic anemia during times of oxidative stress due to the lack of an enzyme, glucose-6-phosphate dehydrogenase, that protects red blood cells. The document describes the clinical presentations, treatments, and diagnostic testing for each condition.
The document summarizes key aspects of the hexose monophosphate pathway (HMP pathway or pentose phosphate pathway). It describes the pathway's location in the cytosol and key tissues where it is active. The oxidative and non-oxidative phases of the pathway and their reactions are outlined. Regulation of the pathway by NADPH concentration is mentioned. The significance of the pathway is that it generates pentoses and NADPH, which is important for biosynthesis and antioxidant reactions. Deficiencies in the pathway can cause hemolytic anemia.
Glucose 6-phosphate dehydrogenase Defeciency أنيميا الفول محمد عبد الغفار
يعني ايه أنيميا الفول ؟ ليه اسمها كده .. بتحصل ازاي ؟!
ايه الأكلات اللي تتجنبها ؟ ايه الأدوية اللي ممكن تعمل مشاكل لذلك النوع من المرضى ؟
كل ده in scientific details :)
This document discusses various types of anemia, including their definitions, pathophysiology, clinical presentations, diagnostic evaluations, and treatments. It covers iron deficiency anemia, vitamin B12 and folate deficiency anemias, thalassemias, sickle cell disease, and other hereditary and acquired anemias. Evaluation includes complete blood count, peripheral smear, iron studies, and other tests depending on suspected etiology. Management involves treating the underlying cause, such as iron or vitamin supplementation.
The pentose phosphate pathway generates NADPH and pentoses through oxidative and non-oxidative phases. It produces NADPH, an important cellular antioxidant, in tissues like liver and red blood cells. Glucose-6-phosphate dehydrogenase (G6PD) deficiency results in inadequate NADPH production and leads to hemolytic anemia upon exposure to oxidative drugs or foods. A case study describes a medical student with malaria treated with primaquine who developed hemolytic anemia due to his unknown G6PD deficiency.
The HMP shunt, also known as the pentose phosphate pathway or phosphogluconate pathway, is an alternative pathway to glycolysis and the TCA cycle for glucose oxidation. It is more anabolic in nature and concerned with biosynthesis of NADPH and pentoses. Approximately 10% of glucose enters this pathway daily, with the liver and RBCs metabolizing around 30% of glucose through this pathway. The HMP shunt occurs in the cytosol and generates NADPH and pentoses like ribose-5-phosphate, which are important for lipid, steroid, and nucleic acid synthesis. No ATP is directly utilized or produced in the HMP shunt.
The pentose phosphate pathway generates NADPH and pentose sugars through oxidative and non-oxidative branches. In the oxidative branch, glucose-6-phosphate is oxidized to produce NADPH and ribulose-5-phosphate. A series of isomerizations and transketolase reactions in the non-oxidative branch generate additional pentose phosphates and hexose phosphates. Overall, the pathway generates reducing power in the form of NADPH and pentose sugars used for nucleotide and amino acid biosynthesis.
1) The document discusses mechanisms of VLDL overproduction in insulin resistance using a fructose-fed hamster model.
2) Hamsters fed a high fructose diet develop insulin resistance, hypertriglyceridemia, and increased hepatic VLDL production.
3) Studies show that insulin resistance in hamster liver leads to overexpression of MTP and overproduction of VLDL, possibly due to disruption of insulin signaling pathways involving IRS-1 and PI3-kinase.
The document discusses point-of-care testing (POCT) in outpatient departments. It defines POCT as medical diagnostic testing performed close to patients and outside clinical laboratories. Key benefits of POCT include faster results and feedback to patients, enabling timely treatment. Specific POCT tests mentioned include complete blood count, blood gases, glucose, CRP, lipid profiles, and urine tests. Challenges of POCT include ensuring quality and appropriate use. The document argues POCT can help reduce unnecessary antibiotic prescription by providing rapid white blood cell counts for pediatric patients.
This document summarizes recent developments in anti-diabetic therapies that target incretin hormones like GLP-1. DPP-4 inhibitors and GLP-1 agonists help address multiple defects in type 2 diabetes pathophysiology by increasing insulin secretion, reducing glucagon levels, and promoting satiety. While some DPP-4 inhibitors were found to increase heart failure risk, the GLP-1 agonists liraglutide and lixisenatide showed neutral cardiovascular outcomes. GLP-1 therapies may also help preserve pancreatic beta cell function and reduce weight. However, they have been linked to rare cases of thyroid cancer in rodents and should not be used in patients with personal or family history of medull
journal club presentation on effect of vindoline on hyperglycemia and liver...NitinKale46
vindoline effectively ameliorated diabetes induced hepatotoxicity by docking oxidative oxidative stress, inflammation and hyperglycemia in type 2 diabetes rat
This document provides an overview of salicylate (aspirin) overdose or toxicity. It discusses the therapeutic uses and inherent toxicity of salicylates. It covers the pathophysiology, diagnosis, clinical presentation, and treatment of both acute and chronic salicylate poisoning. Symptoms can involve multiple organ systems. Treatment focuses on decontamination, fluid resuscitation, urinary alkalinization, and hemodialysis in severe cases. Prognosis is generally good for acute overdoses but worse for chronic poisoning.
This document summarizes information about autoimmune hepatitis (AIH), including:
- It is a T-cell mediated immune attack on the liver that causes progressive damage and can lead to cirrhosis.
- Two main types (type 1 and type 2) are distinguished by their associated autoantibodies.
- Women are affected more often than men. Treatment involves immunosuppression with glucocorticoids alone or in combination with azathioprine to induce remission. Response to treatment and long term outcomes depend on disease severity at presentation.
Recent Advances in Malaria PharmacotherapyShreya Gupta
This document summarizes recent advances in malaria. It discusses the global disease burden, epidemiology in India, pathophysiology and diagnosis. Current treatments include chloroquine, primaquine, and artemisinin combination therapies (ACTs). New drugs are needed due to emerging drug resistance and side effects. Recent advances include the development of new ACT regimens and continued efforts in vector control programs.
Personalized medicine involves the prescription of specific therapeutics best suited for an individual based on their genetic or proteomic profile. This talk discusses current approaches in drug discovery/development, the role of genetics in drug metabolism, and lawful/ethical issues surrounding the deployment of new health technology. I highlight some bioinformatic roles in the drug discovery process, and discuss the use of semantic web technologies for data integration and knowledge discovery..
This document discusses malaria, its causes, symptoms, diagnosis and treatment. It focuses on Artemisinin-based combination therapy using Dihydroartemisinin and Piperaquine Phosphate. It summarizes that malaria is caused by a parasite transmitted through mosquito bites, causes millions of deaths annually, and its most deadly form is caused by the Plasmodium falciparum parasite. It recommends Artemisinin-based combination therapy as the most effective treatment according to WHO, with Dihydroartemisinin-Piperaquine being a fixed-dose formulation that is safe, effective and convenient for treating uncomplicated malaria.
The document discusses malaria, including:
- The causative parasites (Plasmodium falciparum, vivax, malariae, ovale) and their characteristics.
- The lifecycle involving transmission between humans and mosquitoes.
- Signs and symptoms like fever, symptoms of severe malaria like cerebral malaria.
- Diagnosis, treatment and drug resistance.
- Prevention through insecticide-treated bednets, intermittent preventive treatment in pregnant women, and the goal of the Roll Back Malaria partnership.
Autoimmune hepatitis is a chronic liver disease characterized by autoimmune destruction of the liver. It is diagnosed based on the presence of autoantibodies, elevated serum globulins, and evidence of hepatitis on liver biopsy after excluding other causes. The disease affects women more than men and can progress to cirrhosis if untreated. Treatment involves immunosuppression with corticosteroids and azathioprine to induce and maintain remission.
The document discusses treatment of hypertensive patients who also have dyslipidemia. It describes a case study of a 57-year-old man with prior myocardial infarction, uncontrolled hypertension, and elevated LDL cholesterol. Clinical trials show that intensive statin therapy to achieve lower LDL levels reduces cardiovascular risks more than moderate statin therapy. The Heart Protection Study also found that simvastatin reduced cardiovascular events in high-risk patients, regardless of baseline LDL level.
A slide series to learn and appreciate the importance and the potential of Personalized/Individualized Genomic Medicine. It briefly goes through the idea of biotechnology and the advancements we have made in biology and technology. A series of applications for genomic medicine is then explored, not failing to mention the challenges we have to overcome as well, for the next medical revolution.
A case for personalized medicine is presented.
This document discusses chemotherapy for malaria. It begins by introducing the different Plasmodium species that cause malaria and their global epidemiology. It then describes the life cycle of malaria parasites and how they are transmitted between humans and mosquitoes. The document outlines various diagnostic tests for malaria and clinical manifestations associated with different Plasmodium species. It proceeds to classify antimalarial drugs based on their mechanisms of action and which stages of the parasite life cycle they target. Specific antimalarial drugs are then discussed in more detail, including their mechanisms, effectiveness, and common side effects.
This lecture discusses principles of selecting antifungal agents in the intensive care unit in the treatment of suspected candidasis or confirmed fungemia.
- Systemic Lupus Erythematosus (SLE) is an incurable, multisystemic autoimmune disease that predominantly affects women and has variable rates of median age of onset depending on ethnicity.
- SLE can affect many different body systems and has a variety of potential symptoms and complications, including renal, neurological, and hematological manifestations.
- Treatment involves managing symptoms with medications like hydroxychloroquine, corticosteroids, immunosuppressants, and emerging therapies targeting B cells and cytokines.
1) A 42-year-old man suffered cardiac arrest due to an acute myocardial infarction (MI) and died after 10 days in the hospital. His lipid profile showed elevated total cholesterol and LDL cholesterol.
2) The genetic basis of MI risk involves both monogenic mutations that confer large effects and polygenic contributions from many common genetic variants. A polygenic risk score can identify individuals at high genetic risk of MI.
3) Statins provide greater reduction in MI risk for individuals at high genetic risk compared to average or low genetic risk individuals. Genetic profiling may help optimize prevention and treatment of MI.
Malaria in Haiti Symposia, presented in Milot, Haiti at Hôpital Sacré Coeur.
CRUDEM’s Education Committee (a subcommittee of the Board of Directors) sponsors one-week medical symposia on specific medical topics, i.e. diabetes, infectious disease. The classes are held at Hôpital Sacré Coeur and doctors and nurses come from all over Haiti to attend.
India has a high burden of diabetes, with over 61 million diabetic patients. Type 1 diabetes incidence is increasing, with around 78,000 children developing it annually. Genetic and environmental factors contribute to type 1 diabetes risk. Vaccination for type 1 diabetes aims to induce regulatory T-cells to prevent immune destruction of insulin-producing beta cells. While antigens and clinical trials show promise, challenges remain in identifying biomarkers, developing animal models, and determining optimal combinations or adjunct therapies.
1. Researchers analyzed the whole genomes of 262 strains of the malaria parasite Plasmodium falciparum that were resistant to 37 antimalarial compounds to identify new drug targets and resistance genes.
2. The study confirmed previously known genetic factors contributing to drug resistance and revealed new targets that improve understanding of the parasite's biology.
3. Analyzing how the parasite evolves drug resistance in the lab can reveal new drug targets and help design antimalarials that slow the development of resistance.
1. Tafenoquine: A Novel Preventative treatment for malaria in G-6-p-d deficient patients Prepared for LEO Pharma January 14, 2011 By M. Christian Armstrong, M.D. M.H.S.A.
6. Malaria Malaria Half of the global population at risk* 2008 Up to 311 million cases* Up to 1,003,000 deaths* * http://www.cdc.gov/malaria/about/facts.html
7. Malaria What is Malaria? A parasite infection* Infects the blood stream Flu-like symptoms* High fever Chills/Shaking Death* 1 child <5 years old every 30 seconds** * http://www.cdc.gov/malaria/about/facts.html ** Butcher, G. A.; Sinden, R. E.; Curtis, C. Malaria: New ideas, old problems, new technologies. Parasitol. Today 2000, 16, 43–44.
8. Malaria Malaria Treatment chloroquine atovaquone-proguanil (Malarone®) artemether-lumefantrine (Coartem®) mefloquine (Lariam®) quinine quinidine doxycycline (used in combination with quinine) clindamycin (used in combination with quinine) primaquine * http://www.cdc.gov/malaria/about/facts.html
10. G6PD Deficiency Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency MC enzyme deficiency worldwide Approximately 400 million people affected* MC populations: African, Asian, Mediterranean, or Middle-Eastern descent* In the USA up to 10% black males are affected* * Frank, J.E. (2005). Diagnosis and management of g6pd deficiency. American Family Physician, 72(7), 1277-1282.
11. G6PD Deficiency What is G6PD? It is a disease state that causes acute hemolysis (RBC’s break apart) when the patient has an infection, ingestion of fava beans, or exposure to an oxidative drug.* * Frank, J.E. (2005). Diagnosis and management of g6pd deficiency. American Family Physician, 72(7), 1277-1282.
22. G6PD Deficiency Why is the biochemistry important? Understand how the drugs cause the oxidative stress. Remember “AAA”? Antibiotics (sulfa drugs) Antipyretics Antimalarials??? Antimalarials
23. G6PD Deficiency Malaria Treatment chloroquine atovaquone-proguanil (Malarone®) artemether-lumefantrine (Coartem®) mefloquine (Lariam®) quinine quinidine doxycycline (used in combination with quinine) clindamycin (used in combination with quinine) primaquine “quin” Drugs
25. Tafenoquine What is tafenoquine? An 8-aminoquinoline (8-AQ) antimalairal* Same family as pamaquine and primaquine* Derivative of primaquine* *Shiraki, H. (2011). Antimalarial activity of novel 5-aryl-8-aminoquinoline derivatives. Journal of Medicinal Chemistry, 54, 131-142.
26. Tafenoquine Problem with Primaquine 5-hydroxy-8-aminoquinolines Semiquinoneimine radical formation* Iminoquinolione formation* Derivatives formed Lost anitmalarial activity* Retained hemolytic toxicity* *Shiraki, H. (2011). Antimalarial activity of novel 5-aryl-8-aminoquinoline derivatives. Journal of Medicinal Chemistry, 54, 131-142.
27. Tafenoquine vs. Primaquine Tafenoquine Less toxic Longer Acting Weekly dosing More Potent At least 10 times more potent than primaquine Primaquine More toxic Sorter Acting Daily dosing Less potent
29. Tafenoquine Latest Research: Parent compounds of primaquine and tafenoquine may be the active species* Metabolites are responsible for toxicity* Next round of research will study hemolytic side effect in G6PD deficient condition* *Shiraki, H. (2011). Antimalarial activity of novel 5-aryl-8-aminoquinoline derivatives. Journal of Medicinal Chemistry, 54, 131-142.
What I am going to talk about today is two separate disease states that are often comorbid and one emerging treatment that provides treatment in an area that was previously difficult to treat. The first disease state is malaria. Which, according to the Center for Disease Control, potentially affects half of the worlds population. In 2008 alone, 190-311 million clinical episodes and 708k – 1.003 million deaths.
What I am going to talk about today is two separate disease states that are often comorbid and one emerging treatment that provides treatment in an area that was previously difficult to treat. The first disease state is malaria. Which, according to the Center for Disease Control, potentially affects half of the worlds population. In 2008 alone, 190-311 million clinical episodes and 708k – 1.003 million deaths.
What I am going to talk about today is two separate disease states that are often comorbid and one emerging treatment that provides treatment in an area that was previously difficult to treat. The first disease state is malaria. Which, according to the Center for Disease Control, potentially affects half of the worlds population. In 2008 alone, 190-311 million clinical episodes and 708k – 1.003 million deaths.
What I am going to talk about today is two separate disease states that are often comorbid and one emerging treatment that provides treatment in an area that was previously difficult to treat. The first disease state is malaria. Which, according to the Center for Disease Control, potentially affects half of the worlds population. In 2008 alone, 190-311 million clinical episodes and 708k – 1.003 million deaths.
Malaria is a parasite infection that is transmitted via mosquito bite which infects the blood stream. The parasite causes patients to get violently ill with flu-like symptoms. This condition, if left untreated can result in death.
Typically if someone gets a malaria infection, there is a well established treatment protocol which includes the drugs in this list.
The second disease state is called Glucose-6-Phosphate Dehydrogenase. G6PD Deficiency is a disease state where a vital enzyme is deficient in the body of those affected. It is actually the most common enzyme deficiency world wide affecting approximately 400 million people. The most commonly affected population groups are of African, Asian, Mediterranean, or Middle-Eastern descent.
The second disease state is called Glucose-6-Phosphate Dehydrogenase. G6PD Deficiency is a disease state where a vital enzyme is deficient in the body of those affected. It is actually the most common enzyme deficiency world wide affecting approximately 400 million people. The most commonly affected population groups are of African, Asian, Mediterranean, or Middle-Eastern descent.
As an enzyme deficiency state, there is no direct treatment for G6PD. The treatment of choice is avoidance. We treat these patients by having them avoid compounds that are likely to cause a reaction.
This means that the typically only directly effects males.
So, an effected father will transmit the disease to all of his daughters and none of his sons. Whereas, a carrier mother will transmit the disease to half of her children. Half of her daughter will be carriers and half of her sons will be directly affected with the condition.
G6PD, under normal conditions, is responsible for the maintenance of Nicotinamide adenine dinucleotide phosphate (NADP+) and its conversation to NADPH. NADPH is responsible for regenerating glutathione and the removal of free radicals which cause damage to blood cells.Free radicals are molecules that are missing an electron. Generally, free radicals attack the nearest stable molecule, "stealing" its electron. When the "attacked" molecule loses its electron, it becomes a free radical itself, beginning a chain reaction. Once the process is started, it can cascade, finally resulting in the disruption of a living cell.Glutathione eliminates the free radical by donating the needed electron and converting the free radical into a more stable byproduct such as water (H2O).
These are some of the drugs that are typically used for malaria treatment. However, they are either contraindicated in G6PD patients, high risk, possibly dose restricted, not indicated for prophylactic treatment. The biggest problem is the rapid spread of drug resistant malarial strains.
Because GSH works to remove the oxidant stress which leads to cell damage, the lack of G6PD activity enhances the sensitivity of the red cells to the oxidant assault.7 It is generally believed that the metabolites of 8-AQ are the toxic species to erythrocytes, not parent compounds, at clinically relevant concentration. (Bolchoz, L. J. C.; Budinsky, R. A.; McMillan, D. C.; Jollow, D. J. Primaquine-induced Hemolytic Anemia: Formation and Hemotoxicity of the Arylhydroxylamine Metabolite 6-Methoxy-8-hydroxylaminoquinoline. J. Pharmacol. Exp. Ther. 2001, 297, 509–515. )In general, putative 5-hydroxy-8-aminoquinolines are thought to be responsible for the hemotoxic compounds.9-13 These metabolites are capable of forming semiquinoneimine radical and iminoquinolinone under physiological conditions, leading to the subsequent generation of hydrogen peroxide and oxidative stress in erythrocytes14 (Scheme 1). To avoid the quinoneimine metabolite formation and thus the hemolytic side effects, a series of derivatives of 2 were reported over the years.3b,15-17 However, the new derivatives of 2 either lost antimalarial activity or retained both activity and hemolytic toxicity.