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Year : 2021  |  Volume : 10  |  Issue : 2  |  Page : 97-101

Description of hemoglobin H disease mutations in alpha thalassemia patients in Sulaimani Region in Kurdistan Region, Iraq

1 Department of Biochemistry and Clinical Chemistry, College of Pharmacy, University of Sulaimani, Sulimaniyah, Iraq
2 Thalassemia and Congenital Blood Disorders Center / Sulimaniyah, Iraq
3 Department of Medical Biochemistry, College of Medicine, University of Sulaimani, Sulaimaniyah, Iraq
4 Department of Biology, College of Science, University of Sulaimani, Sulaimaniyah, Iraq

Correspondence Address:
Dr. Gaza Faraj Salih
Department of Biology, College of Science, University of Sulaimani, Sulaimaniyah
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijh.ijh_12_21

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CONTEXT : Hemoglobin H (HbH) disease is induced by mutations in three out of the four α- globin genes. Most commonly, mutations are either deletional or nondeletional. While some deletions (3.7 and 4.2) induce α+ thalassemia, others induce (20.5, MED, THA1, FIL) α0 thalassemia. HbH disease is a combination of both. AIMS : This study aimed to describe alpha-thalassemia (HbH disease) mutations in Suliamaniyah Province, Iraq. MATERIALS AND METHODS : Fifty-one patients with hypochromic microcytic anemia were evaluated for HbH disease. For each patient, a 2-ml venous blood sample was taken for isolating DNA. The samples were inspected for HbH disease mutations by gel electrophoresis, applying the α-Globin Strip Assay from the Vienna Lab TM commercial kit. STATISTICAL ANALYSIS: Microsoft Excel software was used to analyze data. RESULTS : Clinical data from complete blood count, hemoglobin (Hb)-electrophoresis, and HbH test were measured. HbH patients had significantly low levels of mean corpuscular volume, mean corpuscular Hb, and Hb (HGB) compared to normal values, and all showed a positive result in the HbH test with a low level of HbA2. Both the Med double gene deletion (3.7/MED) and the 3.7 single-gene deletion were detected in 68.62% of patients. Single-gene deletion 4.2, double gene deletion 20.5 (4.2/20.5), double gene deletion Med, and point mutation α2 poly A2 (MED/α2 poly A2) were all found in 1.96% of patients. CONCLUSION : There is no difference between the phenotypes of patients with different genotypes.

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