Literature DB >> 6111635

Molecular basis for mild forms of homozygous beta-thalassaemia.

D J Weatherall, L Pressley, W G Wood, D R Higgs, J B Clegg.   

Abstract

Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of beta-thalassaemia.

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Year:  1981        PMID： 6111635     DOI： 10.1016/s0140-6736(81)92864-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  12 in total

Review 1.  Thalassemia: genotypes and phenotypes.

Authors:  D Loukopoulos
Journal:  Ann Hematol       Date:  1991-05       Impact factor: 3.673

Review 2.  Spinal space occupying lesions in thalassemia major.

Authors:  J Reif; N Graf
Journal:  Neurosurg Rev       Date:  1989       Impact factor: 3.042

Review 3.  Thalassemia: genotypes and phenotypes.

Authors:  D Loukopoulos
Journal:  Ann Hematol       Date:  1991-04       Impact factor: 3.673

4.  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

5.  Psychosocial and clinical burden of thalassaemia intermedia and its implications for prenatal diagnosis.

Authors:  S Ratip; D Skuse; J Porter; B Wonke; A Yardumian; B Modell
Journal:  Arch Dis Child       Date:  1995-05       Impact factor: 3.791

6.  Acute myeloid leukemia in a hemophilic--a serendipitous coexistence.

Authors:  D K Shome; N Marwaha; R K Marwaha; K Ghosh; G Garewal; D Mohanty
Journal:  Indian J Pediatr       Date:  1984 Sep-Oct       Impact factor: 1.967

7.  Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.

Authors:  Richard Sherva; Orapan Sripichai; Kenneth Abel; Qianli Ma; Johanna Whitacre; Vach Angkachatchai; Wattanan Makarasara; Pranee Winichagoon; Saovaros Svasti; Suthat Fucharoen; Andreas Braun; Lindsay A Farrer
Journal:  BMC Med Genet       Date:  2010-03-30       Impact factor: 2.103

8.  Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon.

Authors:  M A Zago; F F Costa; C Bottura
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

Review 9.  Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.

Authors:  M Dean; G Santis
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

10.  Alpha-globin loci in homozygous beta-thalassemia intermedia.

Authors:  P Triadou; C Lapoumeroulie; R Girot; D Labie
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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