Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of beta-thalassaemia trait.

Abstract:

:To assess and define the effects of heterocellular hereditary persistence of fetal haemoglobin (HPFH) on the haematological phenotype of heterozygous beta-thalassaemia, we have studied a large kindred that included a total of 204 subjects with 60 beta-thalassaemia carriers, of whom 35 were also heterozygous, and five homozygous, for heterocellular HPFH. The study was possible because of the homogeneity of the beta-thalassaemia mutation and the ability to genotype the heterocellular HPFH allele. Heterocellular HPFH had a significant effect on the mean corpuscular haemoglobin (MCH), mean corpuscular volume (MCV) and haemoglobin (Hb) A2 values in the beta-thalassaemia carriers and accounted for 29%, 30% and 24% of their respective variances. beta-thalassaemia subjects with heterocellular HPFH had higher MCV and MCH values, concomitant with lower levels of Hb A2, and a reduced ineffective erythropoiesis. We conclude that co-inheritance of heterocellular HPFH leads to a primary increase in gamma-chain synthesis in beta-thalassaemia trait and can be another confounding factor in the use of red cell indices and Hb A2 levels in population screening for beta-thalassaemia.

journal_name

Br J Haematol

authors

Garner C,Dew TK,Sherwood R,Rees D,Thein SL

doi

10.1046/j.1365-2141.2003.04600.x

subject

Has Abstract

pub_date

2003-10-01 00:00:00

pages

353-8

issue

2

eissn

0007-1048

issn

1365-2141

pii

4600

journal_volume

123

pub_type

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