Diminished extractable spectrin in the erythrocytes of a patient with 'sporadic' hereditary spherocytosis.
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.
D004912:Erythrocytes / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012995:Solubility; D013049:Spectrin / Q000097:blood*; D013103:Spherocytosis, Hereditary / Q000097:blood*
D013049:Spectrin