Title: [Molecular diagnosis of beta-thalassemia intermedia].
Abstract: To analyze the molecular abnormalities of beta-thalassemia intermedia and contribute to the knowledge of the molecular diagnosis and prenatal diagnosis of this disorder.In 14 patients with beta-thalassemia intermedia, we analyzed the hematologies, alpha, beta and gamma globin gene organization and structure as well as globin gene biosynthesis by Southern blot hybridization, multiplex allale specific PCR (MAS-PCR), DNA sequencing and micro-globin chain biosynthetic assay. Moreover, alpha globin gene organization was studied in 250 cord blood specimens.Of the 14 patients, 4 were found to be beta-thalassemia heterozygotes combined with rightward cross-over or/and leftward cross-over triplicated haplotype of alpha-globin gene loci (alpha alpha alpha anti3.7 or/and alpha alpha alpha anti4.2), 3 were compound heterozygotes for beta-thalassemia combined with alpha-thalassemia 1 or 2, one was identified to be a compound heterozygote for beta-thalassemia combined with G gamma promotor-158 (C-->T) mutation. The data of the alpha globin gene organization in 250 cord blood specimens showed that 8 of the 500 tested chromosomes (1.6%) were abnormal: 3 were alpha alpha alpha anti3.7, 4 were alpha -3.7, and one was --SEA.In addition to beta-thalassemia homozygote or compound heterozygotes with alpha thalassemia, the conjunctive abnormalities of beta-thalassemia heterozygote with alpha-globin gene triplication was another major cause of beta-thalassemia intermedia.
Publication Year: 1997
Publication Date: 1997-08-01
Language: en
Type: article
Indexed In: ['pubmed']
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Cited By Count: 2
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