RT Journal Article
SR Electronic
T1 Hemoglobin D/b-thalassemia and b-thalassemia major in a Saudi family
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 674
OP 677
VO 26
IS 4
A1 Owaidah, Tarek M.
A1 Al-Saleh, Mahasen M.
A1 Al-Hellani, Ali M.
YR 2005
UL http://smj.org.sa/content/26/4/674.abstract
AB 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/b-thalassemia, the mother is a carrier for b-thalassemia and 3 of their children are transfusion dependent b-thalassemia. Two of the children are compound heterozygous for Hb D Punjab/b-thalassemia like the father but with different genotype. The other 2 children have Hb D Punjab traits while 2 other children have b-thalassemia traits. Although, compound heterozygous for Hb D/b-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.