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

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.

• Authors: A E Kulozik, S L Thein, J S Wainscoat, R Gale, L A Kay, J K Wood, D J Weatherall, E R Huehns
• Journal: British journal of haematology (Br J Haematol) Vol. 66 Issue 1 Pg. 109-12 (May 1987) ISSN: 0007-1048 [Print] England
• PMID: 3593645 (Publication Type: Case Reports, Journal Article)

Chemical References

• Globins

Topics

• Adult
• Female
• Globins (genetics)
• Heterozygote
• Humans
• Male
• Multigene Family
• Phenotype
• Thalassemia (genetics)