Diagnosis of haemophilia in Pakistan: current picture.
نویسندگان
چکیده
منابع مشابه
O-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Implications for Non-Invasive PrenatalDiagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
متن کاملPrenatal diagnosis of haemophilia-A: a basis for the Pakistani families.
OBJECTIVE To determine the feasibility of a PCR based strategy for prenatal diagnosis of Haemophilia-A in Pakistani Families. DESIGN Prospective. SETTING Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi. SUBJECTS Five families with at least one child affected with Haemophilia-A. Each family comprised of father, mother, affected child and fetus when present. MAI...
متن کاملO-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Diagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
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Congenital bleeding disorders are found in all racial groups and are present worldwide. Among all of them haemophilia A, B and Von Willebrand's disease are the commonest and they are characterized by the low blood levels of factor VIII, IX and Von Willebrand's factor respectively. Severity of bleeding is proportional to the severity of factor deficiency. The diagnosis of bleeding disorders can ...
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Haemophilia B is one of the most common inherited bleeding disorders and has a well understood pathophysiology. Our understanding of the molecular genetics of the disease has allowed the development of comprehensive carrier and prenatal diagnosis for this single gene disorder. Continuing technological developments improve our ability to provide genetic analysis in a rapid and cost-effective man...
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عنوان ژورنال:
- Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
دوره 23 6 شماره
صفحات -
تاریخ انتشار 2013