Literature DB >> 3593645

Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia.

A E Kulozik, S L Thein, J S Wainscoat, R Gale, L A Kay, J K Wood, D J Weatherall, E R Huehns.   

Abstract

Five patients with heterozygous beta-thalassaemia with an unusually severe clinical picture, low haemoglobin levels occasionally requiring blood transfusion, splenomegaly and unusually prominent basophilic stippling were found to have co-inherited a triple alpha-globin gene arrangement on one chromosome (alpha alpha alpha/alpha alpha). It seems probable that the expression of a single extra alpha-globin gene is sufficient in some patients with heterozygous beta-thalassaemia to give rise to a clinically significant degree of dyserythropoietic anaemia.

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Year:  1987        PMID: 3593645     DOI: 10.1111/j.1365-2141.1987.tb06898.x

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


  8 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

2.  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

3.  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 4.  Carrier screening and genetic counselling in beta-thalassemia.

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

Review 5.  The prevention of thalassemia.

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

6.  Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Authors:  A H Beggs; P E Neumann; K Arahata; E Arikawa; I Nonaka; M S Anderson; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1992-01-15       Impact factor: 11.205

7.  Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?

Authors:  W Kugler; J Enssle; M W Hentze; A E Kulozik
Journal:  Nucleic Acids Res       Date:  1995-02-11       Impact factor: 16.971

8.  Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

Authors:  Orna Steinberg-Shemer; Jacob C Ulirsch; Sharon Noy-Lotan; Tanya Krasnov; Dina Attias; Orly Dgany; Ruth Laor; Vijay G Sankaran; Hannah Tamary
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21
  8 in total

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