[Gene mutation analysis of coagulation factor VIII from a female patient with hemophilia A].
Hemophilia A affects male, whereas females are carriers and generally spared from this disease. However, we here reported a 65-year-old female with Hemophilia A while screening the gene mutation of coagulation factor VIII. The female went to hospital because of tripping to lead her right chest to be injured with subcutaneous hematoma. She had historically a hemorrhagic diathesis. The physical examination discovered her hip limited to bend and move, but no discrepancy length between her two legs. The initial laboratory tests showed that the activated partial thromboplastin time (APTT) was 61. 3 seconds (20-40 seconds), and the APTT corrected by mixing with normal plasma was 41.3 s, but the levels of PT, FIB and TT were normal. The plain radiographs revealed the hip joints to suffer from the acetabular dysplasia and osteoarthritis. The level of FVIII:C was 2%, F IX:C 200%, vWF:Ag 120%, vWF:Rcof 100%, vWF:CBA 128%, and the F VIII binding assay to vWF was normal. The primers for exon 14 of F VIII gene were designed according to the NM - 000132 gene sequence. DNA was abstracted from the patient blood. PCR were carried out and the DNA sequence was followed. A new mutation of 4111A-->C was discovered, which caused the amino acid sequence changed (T 1314 P). The mutation of T 1314 P may be the cause of this female patient to get the hemophilia A. This mutation was a novel one which has never been reported before.
Zhou
Jing
J
Clinical Hemotology Laboratory Department, West China Hospital, Sichuan University, Chengdu 610041, China.
Yan
Nai-hong
NH
Jia
Yong-qian
YQ
Lu
Yi-lu
YL
Yu
Jiang
J
Cao
Gui-qun
GQ
Chen
Qing-ying
QY
Wang
Ling
L
Zhang
Fa-qiang
FQ
Xia
Oing-jie
OJ
D000368:Aged; D000595:Amino Acid Sequence; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D017422:Sequence Analysis, DNA
D005169:Factor VIII