A Long Term Screening of Iranian Populations with Thalassemia and Hemoglobinopathies

Background: Thalassemias and hemoglobinopathies are genetic autosomal recessive disorders affecting hemoglobin molecules in different ways, qualitatively and quantitatively. The highest prevalence of thalassemia has been reported in the thalassemia belt and Mediterranean region countries and in Middle East including Iran. The present study evaluated the prevalence of α/ β-thalassemias and hemoglobinopathies in a large number of Iranian populations. Methods: This five-year study was conducted on 3780 individuals. Initially complete blood cell count, HPLC, Hb electrophoresis and HbA2measurement for thalassemia carrier identification. MCV≤80fL, MCH˂27pg and Hb-A2>3.5% were standard diagnostics β-thalassemia diagnosis. In cases with low MCV and MCH indices (MCV≤80 fl, MCH<27 pg) and Hb-A2< 3.5% and normal Hb-electrophoresis, α-thalassemia was considered in the list of differential diagnosis. Patients with abnormal hemoglobin varieties in hemoglobin electrophoresis were candidate for more precise analysis with HPLC. In cases with low MCV for exclusion of iron deficiency serum ferritin was also measured. Results: Our results revealed that 1932 (51.11%) had normal electrophoretic pattern, 781 (20.66%) had β-thalassemia trait and 487 (12.84%) had β-thalassemia major or intermedia, 328 (8.67%) had normal electrophoresis along with iron deficiency and 142 (3.75%) had normal Hb -electrophoresis and normal iron status but low MCV and MCH indices. We also identified 11 (0.29%) with Alpha thalassemia variants Hb-H disease/alpha trait and 22 (o.58%) with sickle trait and 18(o.47%) with sickle disease and 9 (0.23%) HbS-Thalassemia double heterozygote and 5 (0.13%) with E- trait and 32 (0.84%) with Hb-D variant and 1 (0.026%) with heterozygote Hb-C variant and 5 (0.13%) with Hb-D Iran and 1 (0.026%) with Hb-J trait and 1 (0.026%) HbS/D double heterozygote, and 1 (0.026%) with Hb-D/J double heterozygote and 1 (0,026%) with Hb-constant spring/HB-H double heterozygote. Conclusion: β-thalassemia is a common β-globin gene defect among Iranian and HPLC is a fast and reliable method in clinical laboratories especially in diagnosis of rare variant of hemoglobin and also as an important auxiliary tool for the diagnosis of thalassemia.

Author(s): Soudabeh Hosseini, Ebrahim Kalantar and Akbar Dorgalaleh

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