title: Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family.
abstract: We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency.
authors.affiliation: Third Department of Internal Medicine, Gunma University School of Medicine, Gunma, Japan. tmaehara@med.gunma-u.ac.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Maehara
authors.forename: Norifumi
authors.initials: N
authors.lastname: Tsukamoto
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Nojima
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Karasawa
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Murakami
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hattori
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ideguchi
mesh_terms: D000328:Adult; D003598:Cytoskeletal Proteins; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000150:complications*; D004912:Erythrocytes / Q000648:ultrastructure; D005260:Female; D006455:Hemoglobins, Abnormal; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D008855:Microscopy, Electron, Scanning; D009479:Neuropeptides; D010375:Pedigree; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications*
chemical_list: D003598:Cytoskeletal Proteins; D006455:Hemoglobins, Abnormal; D008565:Membrane Proteins; D009479:Neuropeptides; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1