[Pathogenetic mechanism for a female patient with hemophilia A].
OBJECTIVE
To explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).


METHODS
Potential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.


RESULTS
IS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.


CONCLUSIONS
The prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.
Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, China. huanghuif@126.com.
Jiadi
J
Chen
Yanfang
Y
Lin
Xiaolan
X
Lin
Wanzi
W
Chen
Qiang
Q
Fu
Huifang
H
Huang
D000293:Adolescent; D005260:Female; D006467:Hemophilia A / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000032:analysis; D049951:X Chromosome Inactivation
C410798:AR protein, human; D011944:Receptors, Androgen