Variation in the level of fetal hemoglobin in (delta beta) (0)-thalassemia heterozygotes with different numbers of alpha-globin genes.

Abstract:

:The Sicilian type of (delta beta) (0)-thalassemia characterized by a approximately 13 kb deletion, was present in a Turkish boy who is a homozygote and in his heterozygous parents who are first cousins. The father with approximately 21% Hb F had five alpha-globin genes (alpha alpha/alpha alpha alpha) and the mother with approximately 10% Hb F had an alpha-thal-2 heterozygosity (alpha alpha/-alpha). The difference in Hb F level is explained by a decreased formation of alpha 2 gamma 2 tetramers in the mother with an alpha-chain deficiency while the extra alpha-globin gene in the father will promote Hb F production.

journal_name

Am J Hematol

authors

Oner C,Gurgey A,Altay C,Kutlar F,Huisman TH

doi

10.1002/ajh.2830340316

subject

Has Abstract

pub_date

1990-07-01 00:00:00

pages

230-1

issue

3

eissn

0361-8609

issn

1096-8652

journal_volume

34

pub_type

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