Family of Hereditary Elliptocytosis with the Abnormalities of Spectrin Function (Spα^1/74)

Abstract

We have experienced a case of cytohemolytic hereditary elliptocytosis (HE) in a six-year-old boy. Metabolisms of the erythrocytic membrane were investigated on the members from his pedigree.
The results were as follows;
1) The presense or abscence of ovalocytic HE were studied in his pedigree.
2) Failure in the process of spectrin dimer to tetramer conversion was found.
3) Although abnormality existed in conversion of D to T by the patient's α-chain spectrin and normal β-chain spectrin, no abnormality was recognized when normal α-chain and the patient's β-chain were combined
4) Decrease of the α-chain (80 kd) domain and appearance of abnormal (74 kd) spot were found by two dimensional peptide mapping of spectrin.
5) In his pedigree, neither patients with hereditary pyropoikilocytosis (HPP) nor carrier states were recognized.
In summary, this patient's pedigree was considered to be HE [SP α^1/74].
This case appears to be the first case in Japan and only few cases have been reported in the world literature.