Defective spectrin dimer–dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis

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Abstract
Red cell membrane proteins were examined in a family in which 3 children have severe transfusion-dependent homozygous hereditary elliptocytosis. The membranes in all 3 show a considerable excess of spectrin dimers over tetramers in spectrin extracts. The red cell membranes of their parents with heterozygous hereditary elliptocytosis show a lesser but significant increase in spectrin dimers. Some of the family members also have an .alpha.-globin gene deletion and Hb D trait. The present results are the 1st demonstration of a defect of spectrin dimer-dimer association in homozygous elliptocytosis and provide strong support for the concept that this defect is the primary cause of the red cell abnormality in at least some families of hereditary elliptocytosis.