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Thalassaemia-like carriers not linked to the beta-globin gene cluster.

Abstract：

:This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a beta-thalassaemia-like phenotype in whom the beta-globin gene was found to be structurally intact by sequence analysis. This genetic determinant appears haematologically heterogeneous, displaying either a silent beta-thalassaemia-like phenotype or a typical beta-thalassaemia carrier-like phenotype in different families. Compound heterozygosity for both beta-thalassaemia-like determinant and typical beta-thalassaemia allele resulted either in thalassaemia intermedia or thalassaemia major. By linkage analysis both the silent and the typical beta-like determinants were found not to be linked to the beta-globin cluster. Sequence analysis of the hypersensitive site cores of locus control region and of the genes coding for the transcription factors erythroid Kruppel-like factor and nuclear factor (erythroid-derived 2) were normal. beta-globin mRNA levels determined by real-time polymerase chain reaction were reduced in both types of beta-like carriers. These results indicate the existence of causative genetic determinants not yet molecularly defined, but most likely, resulting from either the reduction or loss of function of a gene coding for unknown transcriptional regulator(s) of the beta-globin gene. The knowledge of these rare beta-thalassaemia-like determinants have implications for clinical and, especially, prenatal diagnosis of beta-thalassaemia.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Faà V,Meloni A,Moi L,Ibba G,Travi M,Vitucci A,Cao A,Rosatelli MC

doi

10.1111/j.1365-2141.2005.05915.x

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

640-50

issue

5

eissn

0007-1048

issn

1365-2141

pii

BJH5915

journal_volume

132

pub_type

杂志文章

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