Characterization of Common β-Thalassemia Major Mutations in Southwest Iran with Respect to Biochemical Parameters, Oxidative Status and Complications

Beta-thalassemia are among the most common autosomal recessive genetic disorders in Iran, especially in Khuzestan province. Beta-thalassemia exhibits significant phenotype heterogeneity and there are currently more than 200 known mutations in this region. Oxidative stress exacerbates multiple disorders, including thalassemia, an inherited hemolytic anemia caused by globin gene mutations. We aim to characterize significant mutations of widespread β-thalassemia in south-western Iran with respect to biochemical parameters, oxidative status and complications of diseases.

Forty-five patients, aged between 15-35 years with β-thalassemia major were selected. The patients were receiving regular blood transfusion and chelation therapy and have been previously characterized to bear beta globin gene mutations. The subjects’ medical histories were documented by review of previous medical records. We also determined biochemical parameters including glycemic and iron indices, hepatic and renal function tests, oxidative stress markers and levels of advanced glycation end product species (Carboxy methyl lysine and Pentosidin).

The most common mutation was found to be CD36/37(28.9%) followed by IVSII-1, and IVSI-110. Values of iron indices were significantly different in various mutation groups. Carboxy methyl lysine and pentosidine were found to be higher in the β-thalassemia patients with IVSII-1 and IVSI-110, respectively. Also sLOX-1 was found to be significantly higher in IVSI-110 group. Complications of the disease were differently presented in mutation groups and hemochromatosis, hepatomegaly, and diabetes were among the most common problems.

About 72 % of β-thalassemia major cases in southwest Iran result form 3 common mutations with different clinical and laboratory presentations. Molecular genetic testing can be helpful to evaluate the patients’ situation.