Akademik Veri Yönetim Sistemi
TURKISH JOURNAL OF HEMATOLOGY, cilt.28, sa.3, ss.219-222, 2011 (SCI-Expanded)
Hemoglobin beta (HBB):c.*+96T>C substitution is very rare among beta-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB:c.*+96T>C in the beta-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for beta-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB:c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical beta-thalassemia trait phenotype. The proband was diagnosed as mild beta-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB:c.*+96T>C mutation in a Turkish family. HBB:c.*96T>C substitution is a very rare, but clinically relevant beta-globin gene mutation. Additionally, we think that if 1 spouse is a carrier for beta-globin gene mutation the other should be screened for silent mutations, such as HBB:c.*+96T>C mutation of the beta-globin gene, even if she/he does not have any clinical or hematological signs of the beta-thalassemia trait phenotype. (Turk J Hematol 2011; 28: 219-22)