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A severe hemorragic diathesis has been discovered in a 10 years old girl whose brother has severe hemophilia with classical haemarthrosis. The factor VIII biological activity is less than 1% in both of them with an almost normal factor VIII related antigen. The bleeding time was normal. There was no consanguinity and paternity was not disproved by extensive blood grouping tests. Cytogenetics studies showed a deletion of a part of the long arm of one X chromosome. The formula of the caryotype is 46, X, del X (q.212). The sex chromatin showed the presence of a phenotypic female. The X chromatin was smaller than normal. This is the first case to our knowledge of true female haemophilia A due to a deletion of one X chromosome.

Hemophilia a in a Girl with Deletion of a Part of the long ARM of one X Chromosome