Co-inheritance of Hb D-Punjab (codon 121; GAA-->CAA) and beta (0) -thalassemia (IVS-II-1;G-->A).
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.
Adekile
A D
AD
Department of Paediatrics, Faculty of Medicine, Kuwait University, Safat.
Kazanetz
E G
EG
Leonova
J Y
JY
Marouf
R
R
Khmis
A
A
Huisman
T H
TH
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*
D003062:Codon; D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab