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Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency
DC Rees, J Duley, HA Simmonds, B Wonke, SL Thein, JB Clegg and DJ Weatherall
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington,
Oxford, UK.
A Bangladeshi family is described in which the genes for both hemoglobin E
(Hb E) and pyrimidine 5' nucleotidase deficiency are segregating. An
individual homozygous for both these conditions has a severe hemolytic
anemia, whereas family members who are homozygous for Hb E are asymptomatic
and those homozygous for pyrimidine 5' nucleotidase deficiency have the
mild hemolytic anemia that is characteristic of this disorder. Globin-chain
synthesis experiments have shown that the mechanism underlying the
interaction between these two genotypes is a marked decrease in the
stability of Hb E in pyrimidine 5' nucleotidase-deficient red blood cells
(RBCs). It has also been found that in the enzyme-deficient RBCs in which
Hb E is highly unstable, free alpha-chains, though not beta E-chains,
acoumulate on the membrane. In view of the increasing evidence that the
hemolysis associated with pyrimidine 5' nucleotidase deficiency results not
only from an increase in the level of erythrocyte pyrimidines, but also
from inhibition of the hexose monophosphate shunt activity in young
erythrocytes, it is likely that the marked instability of Hb E in the
enzyme-deficient cells results from oxidant damage acting on a mildly
unstable Hb variant. These observations may have important implications for
the better understanding of the pathophysiology of Hb E/beta-thalassemia,
globally the commonest important form of thalassemia.
Volume 88,
Issue 7,
pp. 2761-2767,
10/01/1996
Copyright © 1996 by The American Society of Hematology
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