The effect of HBB: c.*+96T>C (3'UTR +1570 T>C) on the mild b-thalassemia intermedia phenotype.

ABSTRACT

Hemoglobin beta (HBB) c.*+96T>C substitution is very rare among ß-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 ß-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for ß-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 ß-thalassemia trait phenotype. The proband was diagnosed as mild ß-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 ß-globin gene mutation. Additionally, we think that if 1 spouse is a carrier for ß-globin gene mutation the other should be screened for silent mutations, such as HBB c.*+96T>C mutation of the ß-globin gene, even if she/he does not have any clinical or hematological signs of the ß-thalassemia trait phenotype.