A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease

Am J Hematol. 1994 Mar;45(3):201-4. doi: 10.1002/ajh.2830450302.


A new large deletion from the human alpha-globin gene cluster is characterized. It involves at least 39 kb and includes the two alpha-globin genes, the theta 1-gene, all the pseudogenes, and the two hypervariable regions (HVRs), interzeta-HVR and alpha-globin 3'HVR. The conserved zeta-globin gene has been identified in various restriction fragments of abnormal size. The new deletion was found in four unrelated Israeli patients with Hb H disease, all originating in Yemen, and has been designated--YEM. It is the only two-gene deletion identified in this ethnic group.

MeSH terms

  • Autoradiography
  • DNA Restriction Enzymes
  • Female
  • Gene Deletion*
  • Genotype
  • Humans
  • Israel
  • Jews / genetics*
  • Male
  • Phenotype
  • Yemen / ethnology
  • alpha-Thalassemia / ethnology
  • alpha-Thalassemia / genetics*


  • DNA Restriction Enzymes