Molecular basis of α-thalassemia

Blood Cells Mol Dis. 2018 May;70:43-53. doi: 10.1016/j.bcmd.2017.09.004. Epub 2017 Sep 21.


α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in the world population. The clinical severity varies from almost asymptomatic, to mild microcytic hypochromic, and to a lethal hemolytic condition, called Hb Bart's Hydrops Foetalis Syndrome. The molecular basis are usually deletions and less frequently, point mutations affecting the expression of one or more of the duplicated α-genes. The clinical variation and increase in disease severity is directly related to the decreased expression of one, two, three or four copies of the α-globin genes. Deletions and point mutations in the α-globin genes and their regulatory elements have been studied extensively in carriers and patients and these studies have given insight into the α-globin genes are regulated. By looking at naturally occurring deletions and point mutations, our knowledge of globin-gene regulation and expression will continue to increase and will lead to new targets of therapy.

Publication types

  • Review

MeSH terms

  • Animals
  • Diagnosis, Differential
  • Disease Management
  • Genetic Association Studies
  • Genetic Counseling
  • Genetic Loci
  • Genotype
  • Humans
  • Mutation
  • Phenotype
  • alpha-Globins / genetics*
  • alpha-Globins / metabolism
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / therapy


  • alpha-Globins