Nair Preethi S, Shetty S, Ghosh Kanjaksha
Department of Thrombosis Haemostasis, National Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, Maharashtra, India.
Indian J Hum Genet. 2012 Jan;18(1):134-6. doi: 10.4103/0971-6866.96685.
Hemophilia A (HA), being an X-linked recessive disorder, females are rarely affected, although they can be carriers.
To study the mutation in F8 gene in an extended family with a homozygous female HA.
All the seven affected members (six males and one female) were initially screened by Conformation Sensitive Gel Electrophoresis (CSGE) and direct DNA sequencing.
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 1° 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%.
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.
甲型血友病（HA）是一种X连锁隐性疾病，女性很少患病，尽管她们可能是携带者。
研究一个患有纯合子女性HA的大家庭中F8基因的突变情况。
最初对所有7名受影响成员（6名男性和1名女性）进行了构象敏感凝胶电泳（CSGE）和直接DNA测序筛查。
在一名由一级近亲婚姻生育的受影响女性及其所有受影响男性成员中，在F8基因第9外显子中发现了纯合错义突变c.1315G>A（p.Gly420Ser）。发现她的凝血因子VIII水平为5.5%，血管性血友病因子抗原（vWF:Ag）为120%。
在印度，由于近亲婚姻在某些社区非常普遍（高达30%），遇到女性血友病的可能性更高，尽管这是我们综合血友病护理中心登记的1600个血友病家庭中的首例HA病例。在这种情况下不需要进行基因诊断，因为所有男性儿童都会患病，女儿必然是携带者。
