Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A
نویسندگان
چکیده
Although uncommon, acquired hemophilia A (HA) is associated with a high rate of mortality due to severe bleeding. In spite of many hypotheses regarding the cause of acquired HA, there is as yet no established theory. In this study, we investigated the possibility that mutation(s) in the F8 gene may be correlated with the development of inhibitory autoantibodies. Direct sequencing analysis was performed on all 26 exons of the F8 gene of 2 patients exhibiting acquired HA. Both patients were found to share a common point mutation (c.8899G>A) in the 3'-untranslated region (3'-UTR) of exon 26. This is the first report on the genotyping of F8 in the context of acquired HA.
منابع مشابه
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile
Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family history of bleeding disorders, but presented with heavy uterine bleeding following surgery to remove an in...
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Hemophilia A (HA) and B (HB) are estimated to affect 1 in 5,000 male births in the United States each year.[1] Inheritance of mutations in the Factor VIII (F8) gene or Factor IX (F9) gene causes these bleeding disorders. Identification of mutations causing a patient’s hemophilia can lead to better understanding of risk of complications [2], as well as aid in carrier detection in family members ...
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BACKGROUND Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. AIM To implement a molecular diagnostic test to detect mutations in the F8 gene in Chilean patients with Hemophilia A. MAT...
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