Diminished Extractable Spectrin in the Erythrocytes of a Patient with ‘Sporadic’ Hereditary Spherocytosis

Abstract

A 51-year-old white man of Irish extraction was found to have apparent ‘sporadic’ hereditary spherocytosis with a reticulocyte count of 6%. Twelve of his 13 siblings were examined and found to be haematologically normal. The patient’s erythrocytes were found to have a diminished amount of spectrin as compared to his siblings and to unrelated controls. It is suggested that the proband may represent either a new mutant or possibly double heterozygosity for two inherited biochemical variants of the red cell membrane skeleton which individually give no haematological abnormalities.