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Hemophilia and the female: considerations for the radiologist

Heller RM, Roloff JS, Kirchner SG, Engel E

Radiology, 1979

Abstract

Hemophilia A and B are commonly considered male diseases because of their X-linked recessive inheritance, but clinical hemophilia is occasionally seen in females. This may represent an extreme example of the Lyon hypothesis in which a heterozygous female has only the one X chromosome bearing the aberrant gene in the active state.

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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.

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