Albinism and Abnormal Platelet Function

Abstract

A girl with total albinism and a hereditary mild bleeding disorder was found to have a prolonged bleeding time and impaired platelet aggregation upon incubation of her platelet-rich plasma with connective tissue, epinephrine and thrombin. She is the third known albinic patient in whom this type of intrinsic platelet disorder (primary dysfunction of platelet-adenosine diphosphate release) has been documented. Twelve other albinic patients with prolonged bleeding times described in earlier reports probably represent additional examples of albinism associated with platelet dysfunction. The parents and three nonalbinic siblings of our patient had normal platelet-function studies, suggesting that primary dysfunction of platelet-adenosine diphosphate release associated with albinism is transmitted by a recessive gene. The absence of evidence of vertical transmission of abnormal bleeding in the other albinic kinships in the literature supports this conclusion.