A female bleeder in a family of hemophilia A.
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The present paper reported a case of female bleeder in a family of hemophilia A with sex-linked recessive inheritance. One of her uncles of maternal side and one of uncles of maternal side of her mother were known as hemophilias. The patient, her mother, all of her siblings and two of her cousins of maternal side were examined. The last two were bleeders and were already diagnosed as hemophilia A in our laboratoay.The patient is a 15-year-old female. She has had some hemorrhagic episodes since her early infancy. The first examination which was performed in her twelve years old age revealed prolonged partial thromboplastin time, low level of Factor VIII (6.25%), abnormal TGT which was never corrected with samples of hemophilia A, and reduced prothrombin consumption.The second examination was preformed in an occasion of hematuria in 1974. Normal platelet count, prolonged bleeding time, reduced Factor VIII, and reduced adhesiveness of platelets were observed. Platelet aggregation induced by ADP, collagen and adrenalin was respectively normal. However, the platelet aggregation by ristocetin was always deficient or markedly reduced. This abnormality in ristocetin-aggregation was corrected by adding in vitro normal plasma, as well as hemophilic plasma, while addition of AHG did not correct it. AHG-infusion in this patient did not improve the deficient ristocetin-aggregation nor reduced platelet adhesion. The increase in Factor VIII after the AHG-infusion was as expected mathematically.Factor VIII level in her mother and in her sisters was normal but in latters reduced platelet adhesiveness was recognized and in one of them ristocetin-aggregation was deficient. In two of her cousins who have been considered as hemophilia A, no other findings were observed except for those corresponding to previous diagnosis.The patient and all of her family tested had normal level of Factor VIII-related antigen. The number and the mode of the chromosomes in this case were 46 XX.Although this case resembles to von willebrand's disease, the existence of normal level of Factor VIII-related antigen, and inefficacy of AHG on the reduced adhesiveness and on ristocetin-aggregation faile to this diagnosis. It is considered that this unusual case is deficient in Factor VIII as a carrier of hemophilia A and not as a case of von willebrand's disease, and this hemorrhagic diathesis is rather caused by an associated deficiency in another factor which prolongs the bleeding time, reduces the platelet adhesion and disturbs the ristocetin-aggregation.Whether and how does this factor relate to von Willebrand's factor? Further investigation has to be made.
- 一般社団法人 日本血栓止血学会の論文
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