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Literature DB >> 2828223

The molecular basis of HbH disease in Taiwan.

H W Peng¹, S H Han, T Y Chow, C H Ho, K N Ching, B N Chiang.

Abstract

We have determined the molecular characteristics of alpha-thalassemia in 12 HbH subjects from Taiwan by restriction endonuclease mapping with alpha- and zeta-specific probes. We have found four types of defects in the alpha-thalassemia-2 genetic determinant: -alpha 3.7 type I; -alpha 4.2; alpha CS alpha; and alpha alpha T. All HbH subjects carried the --SEA genotype in the alpha-thalassemia-1 determinant. At least two different subtypes of --SEA genotype were observed in this study.

Entities: Disease Gene

Mesh：

Substances：

Year: 1988 PMID： 2828223 DOI： 10.1007/BF00278183

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

19 in total

1. Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.

Authors: D R Higgs; A V Hill; D K Bowden; D J Weatherall; J B Clegg
Journal: Nucleic Acids Res Date: 1984-09-25 Impact factor: 16.971

The molecular basis of HbH disease in Taiwan.

1. Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.

2. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

3. Haemoglobin Constant Spring--a chain termination mutant?

4. Hydrops fetalis due to an unusual form of Hb H disease.

5. Sequence organization and genomic complexity of primate theta 1 globin gene, a novel alpha-globin-like gene.

6. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication.

7. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

8. Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.

9. Alpha-globin gene organisation and prenatal diagnosis of alpha-thalassaemia in Chinese.

10. Organization of the zeta-alpha genes in Chinese.

1. Rapid molecular characterization of Hb H disease in Chinese by polymerase chain reaction.