Thallasemia prevention
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This document discusses thalassemia prevention in Pakistan. It provides statistics on the incidence of beta-thalassemia major and trait in Pakistan. It describes the autosomal recessive inheritance pattern and the 25% risk of offspring being affected if both parents are carriers. Methods for prevention discussed include carrier screening, genetic counseling, and prenatal diagnosis. Prenatal diagnosis involves chorionic villus sampling to obtain fetal DNA for analysis of prevalent thalassemia mutations. While abortion is allowed in Islam prior to 120 days for serious untreatable conditions, medical ethics for Muslims is based on Islamic jurisprudence and consensus of scholars.
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Beta thalassemia and thalassemia prevention 2021
This document provides information about beta thalassemia, including its classification, epidemiology, etiology, clinical features, diagnosis, complications, management, prognosis, and prevention. It begins by defining beta thalassemia as a genetic disorder of hemoglobin synthesis where there is reduced or absent production of beta globin chains. It then discusses the different types of beta thalassemia, the genetic basis and inheritance patterns, clinical presentation including anemia and organomegaly, diagnostic testing including blood counts and hemoglobin electrophoresis, complications related to iron overload, and long-term management through blood transfusions and chelation therapy. The document concludes with topics of prognosis, highlighting increased mortality risks, and prevention through carrier screening,
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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.
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Halima, an 11-year-old girl with consanguineous parents, presented with not growing well, gradual pallor, and abdominal distension for 7 years. On examination, she was severely pale with facial dysmorphism and hepatosplenomegaly. Her history included repeated blood transfusions. She was diagnosed with hereditary hemolytic anemia. The seminar discussed thalassemia, including the types of thalassemia, clinical features, investigations, complications, and management with a focus on blood transfusions and chelation therapy.
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Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin. There are two main types: alpha thalassemia affects alpha globin chain production and beta thalassemia affects beta globin chain production. Symptoms range from mild anemia to severe anemia requiring regular blood transfusions depending on which genes are affected. Treatment involves lifelong blood transfusions combined with iron chelation therapy to prevent iron overload, and potentially splenectomy or bone marrow transplant.
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Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin. There are two main types: alpha thalassemia affects alpha globin chain production and beta thalassemia affects beta globin chain production. Symptoms range from mild anemia to severe anemia requiring regular blood transfusions depending on which genes are affected. Treatment involves lifelong blood transfusions combined with iron chelation therapy to prevent iron overload, and potentially splenectomy or bone marrow transplant.
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1. Thalassemia is a group of inherited blood disorders caused by a defect in the synthesis of the globin chains that make up hemoglobin. There are two main types - alpha and beta thalassemia.
2. Symptoms range from mild anemia to life-threatening conditions depending on the type and severity. Diagnosis involves blood tests and family screening. Treatment involves lifelong blood transfusions and iron chelation therapy for severe cases.
3. Complications include iron overload, organ damage, bone changes and endocrine abnormalities which require monitoring and additional management. While transplantation offers a cure, compliance with treatment and managing complications long-term is important to maximize outcomes for patients.
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The document discusses thalassemia, a group of inherited blood disorders characterized by reduced or absent globin chains. It covers the basics of alpha and beta thalassemia including genetic basis, classification, clinical outcomes, complications, and management approaches like transfusions, chelation therapy, splenectomy, and immunizations. Key points include the varying severity of alpha and beta thalassemia syndromes depending on which globin chains are affected, the risk of iron overload and related organ damage without proper chelation therapy, and the goal of splenectomy to reduce transfusion needs in severe cases.
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1. Neonatal seizures are the most common manifestation of neurological dysfunction in newborns and can be caused by hypoxic-ischemic encephalopathy, brain malformations, infections, genetic or metabolic issues.
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Alpha thalassemia is caused by mutations in the genes responsible for producing alpha globin, resulting in excessive destruction of red blood cells and anemia. It is characterized by mild to severe anemia, enlargement of the liver and spleen, and other symptoms. Treatment involves regular blood transfusions, folic acid supplements, and iron chelation therapy. Bone marrow transplant may cure severe cases. Beta thalassemia is caused by mutations in the beta globin gene and is characterized by severe anemia and other symptoms from an early age. Treatment focuses on blood transfusions and iron chelation therapy.
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There are many physiological, anatomical, cognitive, social and emotional differences between children and adults that impact disease presentation and healthcare provision. Children have proportionately larger heads, thinner skin, more rapidly dividing cells, and less developed organ systems. Their immune, endocrine, cardiovascular and neurological systems are immature. Children also experience different psychological development stages and social/emotional needs than adults. These developmental factors must be considered to appropriately manage pediatric illnesses and plan future healthcare needs.
Pediatric malabsorption syndromes
The document discusses the importance of the gastrointestinal tract and its functions of digestion and absorption. It provides details on the digestion of carbohydrates, proteins, lipids, and vitamins/minerals in the GI tract. Key enzymes and their sites of action are identified. Malabsorption syndromes are then examined, including causes, classification, epidemiology, clinical presentation, and relevant laboratory studies. Overall, the document emphasizes the critical role of proper GI function for overall health and nutrition.
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2. Symptoms range from mild anemia to life-threatening conditions depending on the type and severity. Diagnosis involves blood tests and family screening. Treatment involves lifelong blood transfusions and iron chelation therapy for severe cases.
3. Complications include iron overload, organ damage, bone changes and endocrine abnormalities which require monitoring and additional management. While transplantation offers a cure, compliance with treatment and managing complications long-term is important to maximize outcomes for patients.
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- The composition and types of human breast milk changes over time.
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- Guidelines around proper breastfeeding techniques like positioning, attachment, and ensuring full emptying of breasts at each feeding.
- Storage and handling of expressed breast milk.
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Neonatal seizures
This document discusses neonatal seizures, including their classification, causes, diagnosis, and management. It defines neonatal seizures as clinical manifestations of underlying neurological dysfunction in newborns. Seizures are classified as subtle, tonic, clonic, or myoclonic. Common causes include hypoxic-ischemic encephalopathy, intracranial hemorrhage, infections, and metabolic disturbances. Diagnosis involves a medical history, physical exam, and investigations like blood tests, imaging, EEG, and CSF examination. Initial management focuses on stabilization, treating correctable causes like hypoglycemia and hypocalcemia, and anti-seizure medications if needed. Nursing care includes emergency response, psychosocial support for family members, and
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Newborn Screening
Newborn screening is a public health program that screens infants shortly after birth for treatable genetic or metabolic conditions. The goal is early detection so medical treatment can be promptly initiated to prevent irreversible damage. Conditions commonly screened for include phenylketonuria, congenital hypothyroidism, galactosemia, and maple syrup urine disease. Screening methods have advanced from bacterial assays of individual conditions to tandem mass spectrometry, which can screen for over 50 conditions in a single test.
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Thalassemia is a blood disorder where the body produces abnormal hemoglobin, leading to excessive destruction of red blood cells and anemia. There are two main types - alpha and beta thalassemia - which vary based on defects in alpha or beta globin genes. Treatment options include regular blood transfusions to provide healthy red blood cells, iron chelation therapy to remove excess iron from transfusions, and bone marrow transplants in some cases. Screening programs are important for prevention through genetic counseling and testing of carriers to reduce risk of children being born with severe thalassemia.
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Thalassemia is a genetic blood disorder where the body produces unhealthy red blood cells and less hemoglobin. It is caused by mutations in the genes that make hemoglobin. There are two main types - alpha thalassemia and beta thalassemia. Symptoms include fatigue, weakness, and pale skin due to anemia. While there is no cure, treatment focuses on blood transfusions and chelation therapy to manage excess iron in the blood from the transfusions.
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Thalassemia screening in pregnancy, Quality improvement and Evidence based pr...Wisit Cheungpasitporn
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This document discusses the case of a 25-year-old pregnant woman with beta thalassemia major. She is 38 weeks pregnant with her third child. She has a history of beta thalassemia major diagnosed at age 15 and requires regular blood transfusions. Her current pregnancy has been uncomplicated except for mild anemia and IUGR. She is scheduled for a C-section due to her condition and late gestation. The document then provides details on beta thalassemia, its effects on pregnancy, recommended prenatal care and management during pregnancy for women with this condition.
Thalassemia
This document provides information on diagnosing and managing thalassemia and hemoglobin E disease. It discusses diagnostic testing including hemoglobin electrophoresis and blood counts. It describes the clinical features and management of different genotypes of alpha and beta thalassemia including transfusion regimens, iron chelation, complications, and new treatment approaches.
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Genetic counselling 7 march13-Dr.Gourav
Genetic counseling involves evaluating a family's medical history and genetic test results to help them understand inherited disorders and make decisions. Genetic tests analyze blood or tissue samples to identify genes for disorders. Those who may benefit from genetic counseling have a family history of genetic disorders, birth defects, inherited cancers, intellectual disabilities, or recurrent miscarriages. Genetic counseling provides advice on the risks of inherited conditions being passed down and helps with decisions around prenatal testing, treatment, and family planning.
Prenatal diagnosis
Prenatal diagnosis provides couples at risk of genetic disorders with informed choices. Non-invasive tests like maternal serum screening and ultrasound can detect abnormalities, while invasive tests like amniocentesis and chorionic villus sampling allow for chromosome analysis but carry small risks of miscarriage. Advanced maternal age is the most common indication for testing. Prenatal diagnosis aims to detect issues prenatally in order to provide counseling, reduce anxiety, and potentially enable prenatal treatment in the future through gene therapy.
From down syndrome screening to nipt
Prenatal screening and diagnosis of fetal abnormalities like Down syndrome is important given the significant morbidity, mortality, and financial costs associated with these conditions. New screening techniques using cell-free fetal DNA analysis from maternal blood, known as non-invasive prenatal testing (NIPT), have been shown to detect Down syndrome and other trisomies with over 99% accuracy and a false positive rate below 1%. While NIPT has advantages over traditional screening by being non-invasive and having higher detection rates and lower false positives, diagnostic testing through amniocentesis or CVS is still recommended for positive NIPT results to confirm the diagnosis. NIPT is becoming the standard of care for high risk pregnancies but further validation is still needed
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandungan
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
Ultrasonography Scans in Pregnancy
Ultrasonography scans in pregnancy serve several purposes. There are typically two recommended scans: the 11-14 week NT scan to screen for anomalies and the 18-22 week anomaly scan. Additional scans may be needed depending on risk factors and medical history. The NT scan screens for conditions like Down syndrome while the anomaly scan checks for structural abnormalities. Follow-up scans later in pregnancy monitor growth, check high-risk conditions like preeclampsia, and assess fetal well-being. Ultrasound is a valuable screening tool when used appropriately during pregnancy.
Genetic counselling
Genetic counselling provides information and advice about genetic conditions to help couples understand risks and make decisions. It aims to reduce births of genetically defective babies by educating about hereditary patterns, tests, and management options. Genetic counsellors assess family histories, explain diagnoses and recurrence risks, support decisions, and refer individuals to specialists. Nurses help obtain histories, provide psychological support, educate about conditions, and coordinate care during the counselling process.
Genetic counseling & prenatal diagnosis
Genetic counseling involves helping individuals understand genetic disorders and risks within their family. It provides information on inheritance, available testing and management options. The document outlines the process of genetic counseling including taking a family history, constructing a pedigree, assessing risks, communicating diagnoses and management plans. It discusses various clinical situations where genetic counseling is important and types such as prenatal and pediatric. Prenatal diagnosis techniques like amniocentesis and chorionic villus sampling are described which allow for testing the fetus for genetic conditions. The goal of genetic counseling is to enable informed decision making for families impacted by genetic disorders.
geneticcounseling-160302105525.pdf
Genetic counseling involves helping individuals understand genetic disorders and risks by providing accurate medical information. It allows people to make informed decisions about reproduction and management options. Genetic counseling may occur prenatally when testing is done to detect fetal abnormalities, or for other clinical situations like a family history of a genetic condition. The process involves constructing a family history, assessing risks, communicating diagnoses and management plans, and providing support. Prenatal diagnosis techniques allow for the detection of genetic disorders in early pregnancy through ultrasound, maternal serum tests, amniocentesis, chorionic villus sampling, and cordocentesis.
Genetic counselling & Prenatal Diagnosis
This document discusses genetic counseling and prenatal diagnosis. It defines genetic counseling as a process to help individuals understand genetic disorders and make informed decisions. Key points covered include:
- The goals and steps of genetic counseling
- Indications for genetic counseling such as family history of disorders
- Types of genetic counseling including prenatal and pediatric
- Methods of prenatal diagnosis including ultrasound, amniocentesis and chorionic villus sampling
- Risks and procedures for different prenatal tests
Thalassemia free india 2014
This document discusses thalassemia, a genetic blood disorder. It provides information on:
- The types of hemoglobin and their composition
- The genes responsible for alpha and beta globin chains
- Common mutations that cause beta thalassemia in India
- Diagnosis and management of thalassemia major
- Options for prenatal diagnosis including invasive and non-invasive techniques
- Challenges in preventing thalassemia births in India like lack of education, social factors, and economic burdens
- The need for nationwide screening programs and policy support to work towards a thalassemia-free India.
Thalassemia free india 2014
This document discusses thalassemia, a blood disorder caused by mutations in hemoglobin genes. It provides information on the types of hemoglobin normally present at different stages of life, the genes responsible for alpha and beta chains, common mutations that cause thalassemia in India, and the decrease in globin protein synthesis that results in thalassemia. It also summarizes strategies for screening, diagnosis, and prevention of thalassemia births through counseling, prenatal testing, and preimplantation genetic diagnosis.
Future of pnd - Eurocat 2011
Ways to improve prenatal diagnosis in the 21st century
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http://www.eurocat2011.com
prenatal diagnosis
This document provides an overview of prenatal screening and diagnosis of neural tube defects and Down syndrome. It discusses the incidence, risk factors, screening tests, and diagnostic evaluation for neural tube defects including ultrasound, maternal serum AFP testing, amniocentesis, and fetal MRI. Prenatal screening tests for aneuploidies like Down syndrome are also covered, including first trimester ultrasound, maternal serum markers, and integrated screening. Prevention through folic acid supplementation and pregnancy management options are summarized.
pppt on genetic counselling.pptx
Genetic counselling involves evaluating a person or family's risk for inherited medical conditions through family history, genetic testing, and counselling. A genetic counsellor provides information to help clients make informed decisions. The summary discusses the purposes of genetic counselling, which are to provide accurate information on inherited disorders, reassure those at low risk, and allow at-risk individuals to make reproductive choices. It also outlines some key areas of genetic counselling like prenatal screening and testing to detect fetal abnormalities. Nurses play an important role in genetic counselling by educating and supporting clients.
Antenatal / prenatal diagnosis of genetic disorders / diseases . Dr. jaleel
A medical slide presentation useful for doctors and students.prepared by Dr PM Jaleel with standard references
Reproductive Genetics: Introduction to Genetic Testing Options
GenomeSmart can help you navigate the different reproductive genetic testing options to allow you to make informed decisions for the health of yourself and your family.
RM presentation.pptx
This document presents the case of a 39-year-old woman with a history of 5 previous miscarriages who is currently 17 weeks pregnant. Her risk factors for recurrent miscarriage include consanguineous marriage, advanced maternal age, and a history of 3 consecutive miscarriages. Testing showed normal blood tests and ultrasound. The document discusses definitions of miscarriage, risk factors for recurrent miscarriage including antiphospholipid syndrome, genetic and anatomical factors, treatments including low-dose aspirin and heparin for antiphospholipid syndrome, and guidelines for investigating and managing recurrent pregnancy loss.
Genetics in Infertility 2023.pptx
Dr. Jindal discusses genetic disorders in the context of reproductive options and prevention. Key points include:
1. Genetic disorders can cause lethal conditions, disabilities, or recurring issues for families and addressing them is important.
2. Genetic factors contribute significantly to infertility, pregnancy loss, and perinatal mortality. Genetic testing helps identify risks.
3. A genetic workup includes family history, clinical exams, testing like karyotyping or sequencing, counseling on nature and risks of conditions, and reproductive options like preimplantation genetic testing.
4. Carrier screening identifies individuals at risk of passing on autosomal recessive or X-linked disorders so they can make informed reproductive decisions
Still Birth:An Update : Dr Sharda Jain
This document provides an overview of stillbirths including definitions, epidemiology, etiology, approaches to management of stillbirth cases and subsequent pregnancies. It notes that the stillbirth rate in India in 2021 was 12.4 per 1000 births. Investigating the causes of stillbirth involves examining the mother, fetus, placenta and membranes through history, examinations, tests and potentially an autopsy. Managing subsequent pregnancies after a stillbirth includes increased surveillance and optimizing any medical conditions to reduce recurrence risks. The aim is to reduce India's stillbirth rate to 10 per 1000 births by 2030.
Gene screen technology
Genetic screening involves testing individuals to identify those at higher risk of genetic disorders. It determines risk of having or passing on such disorders. There are three main types: prenatal screening of fetuses, carrier screening, and newborn screening. Prenatal screening uses techniques like amniocentesis, chorionic villus sampling, and ultrasound to detect fetal abnormalities. Carrier screening identifies risk of recessive disorders. Newborn screening tests for conditions like phenylketonuria. Genetic screening provides information but also risks anxiety and lack of treatments. It should only be performed when the condition is serious and diagnostic methods adequate.
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Thallasemia prevention
- 1. Thalassemia Prevention in Pakistan Prof. Imran Iqbal
- 3. What Is Your Most likely Diagnosis ?
- 6. β-Thalassaemia Major in Pakistan • Annual birth rate: 5000 • Total numbers: >50,000 • Registered cases: ~10,000 • Mean life expectancy: 10 years (S. Ahmed 1998)
- 7. β-Thalassaemia Trait in Pakistan Punjabi 4.6 % Pathan 5.2 % Sindhi 4.3 % Baluchi 8.0 % Urdu speaking 5.3 % Overall 5.5 % (S. Ahmed 1998)
- 8. Autosomal Recessive Inheritance • What are the chances of the next baby being affected ? • Next child suffering from Thallasemia = 25 % chances
- 9. How to Prevent further Thalassemic births ?
- 10. Carrier Screening Genetic Counseling Prenatal Diagnosis
- 11. • How can we find out Thallasemia carriers in the population ? • Extended Family Carrier Screening
- 12. EExxtteennddeedd ffaammiillyy CCaarrrriieerr SSccrreeeenniinngg
- 13. Index families 183/591 (31%) Control Families 0/397 (0%) General Population (5%)
- 14. Prevention of Thallasemia • - - if Thallasemia patients are present in the family--- • Carrier screening before marriage to avoid marriage between Thallasemia carriers
- 15. • How to explain the situation to the parents, grandparents & other family members ? • Genetic Counseling
- 16. Genetic Counseling •To understand and adapt to medical, familial and psychological consequences of Genetic Disease
- 17. Prevention of Thalassaemia • Identify the carriers • Avoid marriage between two carriers • Offer prenatal diagnosis to the affected couples
- 18. • How can we prevent further Thallasemic births in this family ? • Prenatal diagnosis (Intrauterine screening) for Thallasemia
- 19. Prevention of Thallasemia • Prenatal diagnosis after marriage • - if parents are Thallasemia carriers • - after birth of an affected baby for the next fetus
- 20. Prenatal diagnosis in Thallasemia ? • Chorion villus biopsy to get fetal DNA at 8-10 weeks of LMP / Gestation • PCR to copy /produce adequate DNA for analysis • Genetic / DNA analysis to detect prevalent mutations of Thallasemia gene
- 24. PND of Thalassaemia • 1st PND of Thalassaemia: May 1994 • Total PNDs at AFIP: 2174 – Thalassaemia trait: 1106 (50.9%) – Normal: 526 (24.2%) – Thalassaemia major: 542 (24.9%) • Misdiagnosis: 6/1632 (0.37%) (S. Ahmed, Prenatal Diagnosis 2007)
- 25. Prenatal Diagnosis Identify Couple at Risk Pregnancy Fetal Sampling Affected Fetus Lab Diagnosis Normal Fetus Termination of Pregnancy
- 26. Medical Ethics of Abortion / Termination of Pregnancy • Medical ethics for Muslims is related to Islamic jurisprudence or Fiqh • In case of any difference of opinion, consensus view of scholars is obtained
- 27. Islamic opinion / fatwa
- 28. Islamic view of Abortion Abortion is allowed to be performed Prior to 120 days from the start of conception if Fetus is having a proven, serious, untreatable congenital malformation or is likely to develop serious disease or handicap after birth