Hematopoetic disorders saba 186
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This document discusses two hematopoietic disorders: thalassemia and infectious mononucleosis. It provides details on the pathophysiology, molecular genetics, morphology, diagnosis, and treatment of beta thalassemia minor and major. It also describes the epidemiology, pathogenesis, morphology, differential diagnosis, and diagnosis of infectious mononucleosis caused by the Epstein-Barr virus. Complications from infectious mononucleosis can involve multiple organ systems.
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This document discusses thalassemias, which are hereditary disorders involving reduced synthesis of one or more globin polypeptide chains. It is classified into alpha and beta thalassemias. Alpha thalassemia involves defective synthesis of alpha globin chains, while beta thalassemia involves reduced beta chain synthesis. The classification ranges from severe homozygous forms like hydrops fetalis to mild heterozygous forms like thalassemia minor. The clinical features, laboratory findings, and treatment approaches are described for different forms of alpha and beta thalassemias. Prevention can be achieved through antenatal screening and diagnosis.
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Paroxysmal nocturnal hemoglobinuria fari
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Hemoglobin E beta-thalassemia is caused by coinheritance of the hemoglobin E structural variant and a beta-thalassemia mutation. It has wide clinical heterogeneity, ranging from asymptomatic to life-threatening. Factors influencing severity include the specific beta-thalassemia mutation, coinheritance of alpha-thalassemia, levels of fetal hemoglobin, amounts of abnormal hemoglobin E mRNA splicing, and environmental exposures like malaria. Treatment depends on symptoms and severity, with regular blood transfusions for more severe cases and options like hydroxyurea or bone marrow transplantation in some situations.
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- Thalassemia is a genetic blood disorder caused by mutations in hemoglobin genes. It results in decreased or absent globin chains and abnormal hemoglobins.
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- India has a high burden of thalassemia with over 10,000 children born with thalassemia major each year. Carrier rates vary regionally from 1-15% in different parts of India.
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A single mutation in the gene for the beta chain of hemoglobin causes sickle-cell anemia, replacing a glutamate residue with valine at position 6. This causes deoxygenated hemoglobin S molecules to associate abnormally, forming long fibrous aggregates that deform red blood cells into a sickle shape. Heterozygotes have a protective advantage against malaria, while homozygotes suffer from the painful and debilitating effects of sickle-cell anemia.
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PNH is a rare acquired hemolytic disorder caused by a somatic mutation in the PIG-A gene, resulting in a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis. PNH is characterized by hemolytic anemia, thrombophilia, and bone marrow failure. Diagnosis is made through flow cytometry to detect the absence of GPI-anchored proteins CD55 and CD59 on red blood cells. Treatment involves blood transfusions, anticoagulation therapy, and complement inhibition with eculizumab which significantly reduces hemolysis.
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This document provides an overview of leucopoiesis, the process by which white blood cells are produced. It discusses the classification, morphology, properties, functions, and applied physiology of the main white blood cell types - granulocytes like neutrophils, eosinophils and basophils, and agranulocytes like lymphocytes and monocytes. It also covers pathological variations in white blood cell counts, disorders like cyclic neutropenia and hypereosinophilic syndrome, and recent advances in areas like bone marrow transplantation and flow cytometry.
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This document discusses hemoglobin, its structure and types. It describes that hemoglobin is made up of heme and globin proteins, with each molecule containing two alpha globin chains and two non-alpha chains. The main types discussed are HbA, HbA2, HbF. Hemoglobinopathies and thalassemias are disorders involving abnormalities in hemoglobin structure or globin gene expression. Specific disorders covered include sickle cell anemia, sickle cell trait, hemoglobin H disease, Bart's hydrops fetalis, hereditary persistence of fetal hemoglobin and hemoglobin E.
Red blood cell variation.
This document describes various abnormalities that can be seen in red blood cells during a blood smear examination. It defines different types of anisocytosis (variation in red blood cell size), anisochromia (variation in hemoglobin concentration), and abnormal red blood cell shapes that may indicate underlying hematological disorders. Various intracellular inclusions and remnants such as Howell-Jolly bodies, Heinz bodies, and Pappenheimer bodies are also described.
Pnh
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized by hemolytic anemia, bone marrow failure, and thrombosis. It results from a somatic mutation in the PIG-A gene, leading to a deficiency in glycosylphosphatidylinositol-anchored proteins on the surface of blood cells. This renders the cells susceptible to complement-mediated lysis, causing intravascular hemolysis. Diagnosis involves flow cytometry to detect the deficient proteins on red blood cells and granulocytes. Management focuses on treating anemia, thrombosis, and infections, with complement inhibitors now providing an effective targeted treatment option. PNH has a
Hemoglobinopathy
Dr. Mary Ann Anderson presented on hemoglobinopathies at a scientific meeting. She discussed the genetics, classification, and laboratory features of different hemoglobinopathies including thalassemias and variant hemoglobins. Key points included that hemoglobinopathies are inherited abnormalities of globin chain synthesis that range in severity from asymptomatic to death. Thalassemias result from imbalanced alpha and beta globin chain production and are typically microcytic anemias, while variant hemoglobins have normal globin ratios but structural globin abnormalities. Laboratory testing can help differentiate thalassemias from iron deficiency anemia based on red blood cell indices and iron studies.
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Hemolytic disorders due to inherited abnormalities in red cell cytoskeleton
Hemolytic disorders due to inherited abnormalities in red cell cytoskeleton
Similar to Hematopoetic disorders saba 186
Thalassemia.ppt
Thalassemia is a group of inherited blood disorders caused by mutations affecting the genes that produce the globin chains that make up hemoglobin. There are two main types - alpha and beta thalassemia. Beta thalassemia results in reduced or absent beta chain production leading to anemia, while alpha thalassemia involves alpha chain mutations. Clinical features range from asymptomatic to severe anemia requiring transfusions depending on which genes are affected. Diagnosis involves blood tests and genetic testing. Treatment focuses on blood transfusions and managing iron overload.
27 thalassemias
This document provides an overview of enzymes. It states that enzymes are proteins with catalytic properties due to their ability to specifically activate biological reactions. It notes that enzymes are responsible for metabolic processes in living organisms.
Thalassaemias - By Sarasjothi
This document discusses thalassemias, which are hereditary disorders involving reduced synthesis of one or more globin polypeptide chains. It is classified into alpha and beta thalassemias. Alpha thalassemia involves defective synthesis of alpha globin chains, while beta thalassemia involves reduced beta chain synthesis. The classification ranges from severe homozygous forms like hydrops fetalis to mild heterozygous forms like thalassemia minor. The clinical features, laboratory findings, and treatment approaches are described for different forms of alpha and beta thalassemias. Prevention can be achieved through antenatal screening and diagnosis.
Thalassemia.by dr narmada
The document discusses thalassemia, a genetic blood disorder. It defines thalassemia and describes its prevalence worldwide. There are two main types - alpha and beta thalassemia - depending on which globin chain is deficient. Symptoms range from mild to severe anemia. The disorder is diagnosed through blood tests and analysis of red blood cells. Treatment involves blood transfusions and medication.
Thalassemia
This document discusses thalassemia, a blood disorder characterized by reduced or absent globin chain synthesis. It was first described in 1925 and there are two main types: alpha and beta thalassemia. Alpha thalassemia is more common in Southeast Asia while beta is seen around the Mediterranean. Thalassemia is classified by genotype and clinical severity. Thalassemia major, the most severe form of beta thalassemia, presents in the first year of life with anemia, failure to thrive, and bone changes if untreated. The pathophysiology involves accumulation of unbound globin chains and hemolysis leading to complications like iron overload.
hemoglobinopathies-thalassemia-160524164939 (1).pptx
Thalassemia and sideroblastic anemia are inherited blood disorders characterized by reduced hemoglobin synthesis. Thalassemia results from a genetic mutation affecting either the alpha or beta globin chains, leading to imbalanced globin chain production and anemia. Sideroblastic anemia features iron accumulation in erythroblast mitochondria, causing ineffective red blood cell production. The document defines and compares the genetic causes and clinical manifestations of different types of thalassemia and sideroblastic anemia. Laboratory findings include abnormal hemoglobin levels, red blood cell morphology, and iron studies.
Thalassemia By IPMS-KUM Peshawar
1. Thalassemias are genetic blood disorders caused by mutations in the globin genes that result in reduced or absent globin chain production and imbalanced hemoglobin synthesis.
2. There are two main types: alpha-thalassemia affects alpha chain production and beta-thalassemia affects beta chain production.
3. The clinical severity of thalassemias depends on the number of defective globin genes and ranges from asymptomatic carriers to severe anemias requiring lifelong blood transfusions. Laboratory tests can identify the type and severity through hemoglobin analysis and peripheral blood smears.
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Selective Estrogen Receptor Modulators (SERMs): Tamoxifen is a SERM that binds to estrogen receptors, blocking estrogen from stimulating breast cancer cells. It is effective but may have side effects such as increased risk of endometrial cancer and thromboembolic events.
Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
Combination Therapies
Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
Endocrine Therapy with mTOR Inhibitors: Everolimus, an mTOR inhibitor, can be added to endocrine therapy for patients who have developed resistance to aromatase inhibitors.
Chemotherapy
Chemotherapy is generally reserved for patients with high-risk features, such as large tumor size, high-grade histology, or extensive lymph node involvement. Regimens often include anthracyclines and taxanes.
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It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
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LOW BIRTH WEIGHT. PRETERM BABIES OR SMALL FOR DATES BABIES
low birth weight presentation. Low birth weight (LBW) infant is defined as the one whose birth weight is less than 2500g irrespective of their gestational age. Premature birth and low birth weight(LBW) is still a serious problem in newborn. Causing high morbidity and mortality rate worldwide. The nursing care provide to low birth weight babies is crucial in promoting their overall health and development. Through careful assessment, diagnosis,, planning, and evaluation plays a vital role in ensuring these vulnerable infants receive the specialize care they need. In India every third of the infant weight less than 2500g.
Birth period, socioeconomical status, nutritional and intrauterine environment are the factors influencing low birth weight
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- 1. HEMATOPOETIC DISORDERS THALASSEMIA INFECTIOUS MONONUCLEOSIS SABA ROLL NO 186 RMU
- 2. THALASSEMIA
- 4. PATHOPHYSIOLOGY 1 BETA CHAIN 1 BETA GENE CHROMOSOME 11 1 ALPHA CHAIN 2 ALPHA GENES
- 6. BETA THALASSEMIA TWO TYPES OF MUTATIONS B* B+ No B-Globin Reduced B-Globin chains formed
- 7. MOLECULAR GENETICS • POINT MUTATIONS IN B GENES LEAD TO DEFECTS IN: • TRANSCRIPTION • SPLICING • TRANSLATION
- 8. B THALASSEMIA MINOR (TRAIT) only one abnormal allele ( either B* or B+ )
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- 15. ERYTHROPOETIC MARROW EXPANSION IMPAIR BONE GROWTH SKELETAL DEFORMITIES
- 19. DIAGNOSIS
- 20. INFECTIOUS MONONUCLEOSIS • CLASSIC CLINICAL CASE
- 23. EPIDEMIOLOGY
- 24. PATHOGENESIS
- 26. MORPHOLOGY • LEUKOCYTOSIS • ATYPICAL LYMPHOCYTES • LYMPHADENOPATHY • REED STERNBERG CELLS • ENLARGED SPLEEN • ENLARGED LIVER
- 28. DIFFERENTIAL DIAGNOSIS • STREP THROAT • LYMPHOMA • PUO • HEPATITIS • RUBELLA
- 29. DIAGNOSIS • ATYPICAL LYMPHOCYTOSIS • POSITIVE HETEROPHIL REACTION(MONOSPOT TEST) • RISING TITRE OF EBV ANTIGEN SPECIFIC ANTIBODIES
- 30. TREATMENT • REST • SYMPTOMATIC TREATMENT FOR FEVER • HYDRATION • RESOLVES WITHIN 4-6 WEEKS BUT FATIGUE MAY LAST LONG
- 31. COMPLICATIONS • HEPATIC DYSFUNCTION • NERVOUS SYSTEM, KIDNEYS, BONE MARROW, LUNGS, EYES, HEART AND SPLEEN • B CELL LYMPHOMA • X LINKED LYMPHOPROLIFERATIVE SYNDROME