Indian Journal of Human Genetics
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Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 134-136

A homozygous female hemophilia A

Department of Thrombosis Haemostasis, National Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, Maharashtra, India

Correspondence Address:
Kanjaksha Ghosh
National Institute of Immunohaematology (ICMR), 13th Floor, NMS Building, KEM Hospital Campus, Parel, Mumbai - 400 012, Maharashtra
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Source of Support: Partial grant - The Lady Tata Memorial Trust, DST (Department of Science and Technology)., Conflict of Interest: None

DOI: 10.4103/0971-6866.96685

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Background: Hemophilia A (HA), being an X-linked recessive disorder, females are rarely affected, although they can be carriers. Aims: To study the mutation in F8 gene in an extended family with a homozygous female HA. Materials and Methods: All the seven affected members (six males and one female) were initially screened by Conformation Sensitive Gel Electrophoresis (CSGE) and direct DNA sequencing. Results: A homozygous missense mutation c.1315G>A (p.Gly420Ser) was identified in exon 9 of F8 gene in homozygous state in the affected female born of 1Ί consanguinous marriage and in all the affected male members of the family. Her factor VIII levels was found to be 5.5%, vWF:Ag 120%. Conclusion: In India, as consanguineous marriages are very common in certain communities (up to 30%), the likelihood of encountering female hemophilia is higher, although this is the first case of HA out of 1600 hemophilia families registered in our Comprehensive Haemophilia Care Center. Genetic diagnosis in such cases is not necessary as all the male children will be affected and daughters obligatory carriers.

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