Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Alpha-globin loci in homozygous beta-thalassemia intermedia.

Literature DB >> 6305827

Alpha-globin loci in homozygous beta-thalassemia intermedia.

P Triadou, C Lapoumeroulie, R Girot, D Labie.

Abstract

Homozygous beta-thalassemia intermediate (TI) differs from thalassemia major (TM) in being less severe clinically. Associated alpha-thalassemia could account for the TI phenotype by reducing the alpha/non-alpha chain imbalance. We have analyzed the alpha loci of 9 TI and 11 TM patients by restriction endonuclease mapping. All the TM and 7 of the TI patients have the normal complement of four alpha-globin genes (alpha alpha/alpha alpha). One TI patient has three alpha-globin genes (alpha alpha/-alpha), and another TI patient has five alpha genes (alpha alpha/alpha alpha alpha).

Entities: Disease Species

Mesh：

Substances：

Year: 1983 PMID： 6305827 DOI： 10.1007/bf00274758

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

9 in total

1. COMPARISON OF SIXTY-SIX PATIENTS WITH THALASSEMIA MAJOR AND THIRTEEN PATIENTS WITH THALASSEMIA INTERMEDIA: INCLUDING EVALUATIONS OF GROWTH, DEVELOPMENT, MATURATION AND PROGNOSIS.

Authors: M E ERLANDSON; R BRILLIANT; C H SMITH
Journal: Ann N Y Acad Sci Date: 1964-10-07 Impact factor: 5.691

2. Molecular basis for mild forms of homozygous beta-thalassaemia.

Authors: D J Weatherall; L Pressley; W G Wood; D R Higgs; J B Clegg
Journal: Lancet Date: 1981-03-07 Impact factor: 79.321

3. Genetic and molecular diversity in nondeletion Hb H disease.

Authors: D R Higgs; L Pressley; B Aldridge; J B Clegg; D J Weatherall; A Cao; M G Hadjiminas; C Kattamis; A Metaxatou-Mavromati; E A Rachmilewitz; T Sophocleous
Journal: Proc Natl Acad Sci U S A Date: 1981-09 Impact factor: 11.205

4. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors: S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal: Nature Date: 1982-04-15 Impact factor: 49.962

1 in total

1. Different severity of homozygous beta-thalassemia among siblings.

Authors: P Winichagoon; S Fucharoen; V Thonglairoam; P Wasi
Journal: Hum Genet Date: 1987-07 Impact factor: 4.132

1 in total

Alpha-globin loci in homozygous beta-thalassemia intermedia.

1. COMPARISON OF SIXTY-SIX PATIENTS WITH THALASSEMIA MAJOR AND THIRTEEN PATIENTS WITH THALASSEMIA INTERMEDIA: INCLUDING EVALUATIONS OF GROWTH, DEVELOPMENT, MATURATION AND PROGNOSIS.

2. Molecular basis for mild forms of homozygous beta-thalassaemia.

3. Genetic and molecular diversity in nondeletion Hb H disease.

4. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

5. Mapping the alpha-globin genes in an Algerian HbH patient and his family.

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

7. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.

8. [Thalassaemia intermedia. Clinical and laboratory study. Therapeutic suggestions (author's transl)].

9. The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis.

1. Different severity of homozygous beta-thalassemia among siblings.