Prenatal diagnosis in a haemophilia A family by both factor VIII activity and antigen measurements.
نویسندگان
چکیده
With the advent of molecular biology techniques prenatal diagnosis in haemophilia A is generally being performed by first trimester chorionic villus sampling followed by the DNA analysis using various polymorphic markers of factor VIII gene. Here we report antenatal diagnosis in a haemophilia A family performed in the second trimester by measuring both factor VIII:C and factor VIII:Ag in the fetal blood sample.
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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This review summarizes current data on the pathomechanisms and new genetic findings of combined factor V and VIII deficiency (CF5F8D). Congenital haemorrhagic disorders characterized by deficiency of two clotting factors comprise an interesting group. Among dual coagulation disorders, CF5F8D is the most common type. For the first time combined factor V and VIII deficiency (F5F8D) was reported b...
متن کاملPrenatal diagnosis of haemophilia-A: a basis for the Pakistani families.
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Hemophilia is an X chromosome-linked inherited bleeding disorder. Frequent intra- articular and intra-muscular haemorrhage in severe haemophiliacs can cause significant disability. In order to resolve a simple bleeding in a 20-kilogram child, some 500 IV of factor VIII is usually required. The cost of this replacement therapy is enormous, especially for less wealthy countries. Vigorous exercise...
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 51 شماره
صفحات -
تاریخ انتشار 2003