Standard Article

Globin Genes: Polymorphic Variants and Mutations

  1. John Michael Old

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006078

eLS

eLS

How to Cite

Old, J. M. 2006. Globin Genes: Polymorphic Variants and Mutations. eLS. .

Author Information

  1. Oxford Haemophilia Centre, The Churchill Hospital, Oxford, UK

Publication History

  1. Published Online: 27 JAN 2006

Abstract

The globin genes encode the globin chains that make up hemoglobin (Hb). More than 1000 polymorphic variants of the globin genes have been characterized, consisting of single nucleotide substitutions through to complex gene rearrangements. Most globin gene mutations either alter the amino acid sequence of a globin chain, creating an abnormal hemoglobin such as Hb S, or cause a reduction in the synthesis of one or more normal globin chains (the thalassemia disorders). A few mutations cause both types of defect, while others are simple natural polymorphisms that are used as DNA markers.

Keywords:

  • abnormal hemoglobins;
  • thalassemia disorders;
  • globin gene polymorphisms;
  • globin gene mutations;
  • hemoglobin variants;
  • thalassemia mutations