24 Cases of May-Hegglin Anomaly in One Family

Abstract

Twenty-four cases of May-Hegglin anomaly in one family is reported. This family is the largest one ever reported from Japan.
Their ages ranged from 3 to 79 years and their platelet counts ranged from 2.8×10⁴/μl to 20.3×10⁴/μl. Twenty-three cases were examined for their giant platelets and Döhle like inclusion bodies. All 23 had the giant platelets and 18 of the 23 had Döhle like inclusion bodies in their granulocytes. Seventeen of the 23 (74%) had mild bleeding tendency manifested by purpura and epistaxis.
Five had coagulation studies, including bleeding time, clot retraction, platelet retension by glass beads and aggregation by ADP, collagen, ristocetin and fibrinogen, which were all normal. In one, aggregation by epinephrine was diminished. The diminished aggregation was reproducible in two different concentrations of epinephrine in the presence of normal platelet counts.