The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity.

ABSTRACT:

Background

The clinical syndrome of thalassemia intermedia (TI) results from the beta-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of alpha-thalassemia. However, very little is currently known of the molecular basis of Chinese TI patients.

Methods

We systematically analyzed and characterized beta-globin genotypes, alpha-thalassemia determinants, and known primary genetic modifiers linked to the production of HbF and the aggravation of alpha/beta imbalance in 117 Chinese TI patients. Genotype-phenotype correlations were analyzed based on retrospective clinical observations.

Results

A total of 117 TI patients were divided into two major groups, namely heterozygous beta-thalassemia (n = 20) in which 14 were charact

SUBMITTER: Chen W 

PROVIDER: S-EPMC2845123 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature