Literature DB >> 6318796

Thalassaemia intermedia: a new molecular basis.

S L Thein, I Al-Hakim, A V Hoffbrand.   

Abstract

A 5-year-old child heterozygous for beta thalassaemia has the clinical picture of thalassaemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated alpha gene complex. The greater degree of globin chain imbalance resulting from two additional alpha chain genes is the likely mechanism for this unusually severe clinical phenotype.

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Year:  1984        PMID: 6318796     DOI: 10.1111/j.1365-2141.1984.tb03960.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


  12 in total

1.  Beta-thalassaemia: molecular pathogenesis and clinical variability.

Authors:  A E Kulozik
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

Review 2.  Thalassemia: genotypes and phenotypes.

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

Review 3.  Thalassemia: genotypes and phenotypes.

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

4.  Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

Authors:  P Beris; R Darbellay; A Hochmann; E Pradervand; P Pugin
Journal:  Klin Wochenschr       Date:  1991-10-02

5.  Molecular basis for dominantly inherited inclusion body beta-thalassemia.

Authors:  S L Thein; C Hesketh; P Taylor; I J Temperley; R M Hutchinson; J M Old; W G Wood; J B Clegg; D J Weatherall
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

6.  Effect of alpha thalassaemia trait and enhanced gamma chain production on disease severity in beta thalassaemia major and intermedia.

Authors:  P Gringras; B Wonke; J Old; A Fitches; D Valler; A M Kuan; V Hoffbrand
Journal:  Arch Dis Child       Date:  1994-01       Impact factor: 3.791

7.  Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.

Authors:  Sanjay Kumar Pandey; Sweta Pandey; Ravi Ranjan; Vineet Shah; Rahasya Mani Mishra; Monica Sharma; Renu Saxena
Journal:  J Clin Lab Anal       Date:  2014-01-06       Impact factor: 2.352

Review 8.  Carrier screening and genetic counselling in beta-thalassemia.

Authors:  Antonio Cao
Journal:  Int J Hematol       Date:  2002-08       Impact factor: 2.490

9.  High frequency of triplicated alpha-globin loci and absence or low frequency of alpha thalassemia in Polynesian Samoans.

Authors:  L E Lie-Injo; I G Pawson; A Solai
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 10.  The prevention of thalassemia.

Authors:  Antonio Cao; Yuet Wai Kan
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

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