title: Co-inheritance of Hb D-Punjab (codon 121; GAA-->CAA) and beta (0) -thalassemia (IVS-II-1;G-->A).
abstract: OBJECTIVE
  Homozygosity for Hb D-Punjab (or Hb D-Los Angeles; codon 121; GAA-->CAA) is rare among Arabs. The co-inheritance of Hb D with beta(0)-thalassemia trait is even rarer, with only 10 previous cases reported worldwide.
  
  
  METHODS
  We present clinical and hematological data for two Hb D homozygotes and three compound heterozygotes for Hb D-Punjab and beta(0)-thalassemia (IVS-II-1; G-->A). All the individuals belong to a consanguineous Kuwaiti Arab family. The hemoglobin variant and the beta-thalassemia allele were characterized by sequencing, allele-specific amplification, and oligonucleotide hybridization.
  
  
  RESULTS
  The hematology was unremarkable except for a moderate elevation of Hb F (3-4%) and significant hypochromia and microcytosis in the subject with Hb D/beta(0)-thalassemia.
  
  
  CONCLUSIONS
  This report confirms the benign nature of homozygosity for Hb D.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Kuwait University, Safat.
authors.forename: A D
authors.initials: AD
authors.lastname: Adekile
authors.forename: E G
authors.initials: EG
authors.lastname: Kazanetz
authors.forename: J Y
authors.initials: JY
authors.lastname: Leonova
authors.forename: R
authors.initials: R
authors.lastname: Marouf
authors.forename: A
authors.initials: A
authors.lastname: Khmis
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab