title: Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family.
abstract: The present report describes the clinical, hematological and molecular characteristics in a family with unique interaction between 3 different mutations discovered during routine workup for bone marrow transplantation. In this report, complete hematological and molecular studies were performed for a large Saudi family. The family consisted of parents and 9 children, which revealed that the father is compound heterozygous for hemoglobin Hb D Punjab/beta-thalassemia, the mother is a carrier for beta-thalassemia and 3 of their children are transfusion dependent beta-thalassemia. Two of the children are compound heterozygous for Hb D Punjab/beta-thalassemia like the father but with different genotype. The other 2 children have Hb D Punjab traits while 2 other children have beta-thalassemia traits. Although, compound heterozygous for Hb D/beta-thalassemia has been well described in the literature, our report emphasizes the importance of careful analysis of the electrophoresis results and the usefulness of molecular studies in premarital screening and other screening hemoglobinopathy programs.
authors.affiliation: Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211, MBC 10, Kingdom of Saudi Arabia. towaidah@kfshrc.edu.sa
authors.forename: Tarek M
authors.initials: TM
authors.lastname: Owaidah
authors.forename: Mahasen M
authors.initials: MM
authors.lastname: Al-Saleh
authors.forename: Ali M
authors.initials: AM
authors.lastname: Al-Hellani
mesh_terms: D000293:Adolescent; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C032001:hemoglobin D