title: A new deletional alpha-thalassemia detected in Yemenites with hemoglobin H disease.
abstract: 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.
authors.affiliation: Basil and Gerald Felsenstein Medical Research Center (FMRC), Sackler School of Medicine, Rogoff Medical Research Institute, Beilinson Medical Center, Petah Tikva, Israel.
authors.forename: L
authors.initials: L
authors.lastname: Shalmon
authors.forename: C
authors.initials: C
authors.lastname: Kirschmann
authors.forename: R
authors.initials: R
authors.lastname: Zaizov
mesh_terms: D001345:Autoradiography; D004262:DNA Restriction Enzymes; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D010641:Phenotype; D015006:Yemen / Q000208:ethnology; D017085:alpha-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D004262:DNA Restriction Enzymes