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- Title
Enhanced haemolysis with β-thalassaemia trait due to the unstable β chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4·1 deficiency in a Japanese family.
- Authors
Maehara, Tadashi; Tsukamoto, Norifumi; Nojima, Yoshihisa; Karasawa, Masamitsu; Murakami, Hirokazu; Hattori, Yukio; Ideguchi, Hiroshi
- Abstract
Summary. We identified a Japanese family with a β-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the β-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous β-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of β-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 β-thalassaemia trait or HE was asymptomatic, whereas the two with both β-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the β-thalassaemia trait might be enhanced by association with HE owing to a protein 4·1 deficiency.
- Subjects
HEMOGLOBINS; PROTEIN deficiency; HEMOLYTIC anemia
- Publication
British Journal of Haematology, 2002, Vol 117, Issue 1, p193
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1046/j.1365-2141.2002.03338.x