Genetic analysis in a female manifesting haemophilia B.
نویسندگان
چکیده
A 5 year old female child presented with a psoas haematoma as the first manifestation of haemophilia B. Molecular genetic studies were performed to investigate the inheritance of the disorder and the mechanisms by which females may express the haemophilia B phenotype are discussed.
منابع مشابه
Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
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Here we report the successful genetic diagnosis of a pregnant caucasian female patient whose family has a history of moderate haemophilia B. While restriction fragment length polymorphism (RFLP) analysis was not informative, nucleotide sequencing of the factor IX genes of the patient's family members determined that her mother and one of her two sisters were carriers of the mutation C31008T, wh...
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متن کاملThe molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
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...
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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ورودعنوان ژورنال:
- Postgraduate medical journal
دوره 70 829 شماره
صفحات -
تاریخ انتشار 1994