Premium
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
Author(s) -
Maehara Tadashi,
Tsukamoto Norifumi,
Nojima Yoshihisa,
Karasawa Masamitsu,
Murakami Hirokazu,
Hattori Yukio,
Ideguchi Hiroshi
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03338.x
Subject(s) - haemolysis , spectrin , sickle cell trait , autosomal recessive trait , heterozygote advantage , penetrance , asymptomatic , genetics , compound heterozygosity , hereditary spherocytosis , biology , medicine , immunology , gene , genotype , mutation , phenotype , disease , cytoskeleton , cell
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.