X linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis

Abstract

An unusual family is described with a congenital bleeding disorder present in 4 males belonging to 3 generations. Of the 3 surviving affected males, all had splenomegaly and petechiae. The 3 had moderate thrombocytopenia (55-90 x 109/l) and markedly prolonged Ivy template bleeding times (> 30 min). They were also noted to have reticulocytosis and, upon further investigation, imbalanced globin chain synthesis resembling that of ß thalassemia minor. Studies on 9 additional family members in 4 generations were normal except for slight elevations of reticulocyte counts in female members, one of whom had the abnormal globin chain synthesis ratio. In male members, the bleeding tendency and clinical signs always occurred in the presence of the globin chain synthesis defect and reticulocytosis. This previously undescribed condition was apparently transmitted as an X linked disorder.