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Alpha globine gene mutations in a case series of Kurdish Iranian alpha thalassemia patients
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Latifeh Mohammadpour1   , Mohammad sadegh Fallah2 , Fatemeh Keshavarzi3 , Siroos Zeinali2 , Bayazeed Ghaderi4 , Azad Fattahy Rad5 , Reza Akramipour , Sara Azadmehr2 |
1- Department of Biology, Sanandaj Branch, Islamic Azad University, sanandaj, Iran.
2- Kawsar Human Genetics Research Center, Tehran, Iran.
3- , gol.keshavarzi@gmail.com
4- Internal Medicine, Faculty of Medicine, Kurdistan University of Medical Science, Sanandaj , Iran.
5- Tohid Hospital, Kurdistan University of Medical Science, Sanandaj, Iran. |
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Abstract: (10287 Views) |
| Background and Aim: Alpha Thalassemia is an autosomal recessive genetic disease by reduced or absent synthesis of alpha globin polypeptide chains. One of the severe forms of disease with 3 alpha globin genes inactivation is H disease. In this study genotype of H disease was assessed in some patients with blood abnormalities referred to hospitals of Kermanshah and Kurdistan provinces. Materials and method: In this descriptive research, 110 patients with microcytic and hypochromic anemia were recruited. Based on CBC and hemoglobin electrophoresis tests in patients before blood transfusion or their parents, alpha thalassemia was diagnosed. DNA was extracted by salting out method. The common deletions, alpha globin point mutations and direct sequencing were investigated using multiplex PCR and Sanger methods respectively. Results: In twelve alpha thalassemia patients, it has been shown the deletion mutations of --Med in 5 patients (20.8%), -α3.7 in 4 patients (6.6%) and -α20.5 in 3 patients (12.5%) and also point mutations polyA1 in 3 patients (12.5%),-αcd59 in 2 patients (8.3%) and -αIVSI (-5nt) in 2 patients (8.3%). In 4 cases deletion (-α/--) and in 3 cases (40%) non-deletion H disease (--/ααT) were diagnosed. Two cases showed point mutation of ααT/ααT. Two patients were blood-transfusion dependent. The first one who received regular blood monthly, showed --Med/αcd59 genotype. The second one with -α20.5/-α3.7 genotype received blood occasionally. In 7 patient’s enlargement of spleen was observed and in 3 patients splenectomy was performed earlier. Conclusion: The results showed the genetic diversity in alpha-globin and the importance of point mutations in the H disease. However, further study should be done to determine the accurate genotype and phenotype relationship and to diagnose of H disease in prenatal cases. Keywords: Alpha Thalassemia, H disease, Kurdistan, Kermanshah. Received: Jul 16, 2014 Accepted: Feb 7, 2015 |
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| Keywords: Alpha Thalassemia, H disease, Kurdistan, Kermanshah |
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Full-Text [PDF 1171 kb]
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Type of Study: Original Research |
Subject:
General
Received: 2015/07/12 | Accepted: 2015/07/12 | Published: 2015/07/12
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