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

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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 erthrocyes 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 possible double heterozygosity for two inherited biochemical variants of the red cell membrane skeleton which individually give no haematological abnormalities.

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