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Carrier frequency of alpha thalassemia mutations among newborns in northern Iran
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Mahdavi MR1   , Kosaryan M2 , Karami H3 , Mahdavi M4 , Jalali H5 , Roshan P * 6 |
1- Assistant Professor, Department of Laboratory Medicine, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran
2- Professor, Department of Pediatrics, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran
3- Associated Professor of Pediatrics Hematology and Oncology, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran
4- Doctor in Veterinary Medicine, Sina Mehr Research Center, Sari Iran
5- Ph.D Candidate in by Research in Thalassemia, Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences, Sari, Iran
6- M.Sc in Immunology, Sina Mehr Research Center, Sari, Iran , payam.roshan@gmail.com |
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Abstract: (16450 Views) |
| Background and Objective: Alpha Thalassemia is one of the most prevalent hemaglobinophaties worldwide. Alpha thalasseima patients may represent wide spectrum of symptoms ranging from asymptomatic to severe life threatening anemia. This study was done to assess the carrier frequency of alpha globin gene mutations among newborns in north of Iran. Methods: In this descriptive study, 412 cord blood samples of neonate from Amir Mazandari hospitali were randomly selected during 2012. Genomic DNA was extracted using phenol-chloroform method. Multiplex Gap- PCR and PCR-RFLP methods were applied in order to detect three common gene deletions, one triplication and one point mutation. Results: Total allelic frequency of investigated mutations was 0.0825. The -α3.7 deletion with allelic frequency of 0.0485 was the most prevalent mutation among 412 neonates. Allelic frequencies of -α4.2, αααanti3.7 triplication and α-5nt mutations were 0.0206, 0.0109 and 0.0024 respectively and -Med double gene deletion was not detected. Conclusion: Most mutated cases had single gene deletion that is asymptomatic while -Med double gene deletion was not detected among the neonates. Therefore, there is low probability of a child birth with Hb H disorder in the region. |
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| Keywords: Alpha Thalassemia, Alpha globin, Gene Mutation, Newborn, Iran |
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Full-Text [PDF 190 kb]
[English Abstract]
(19067 Downloads)
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Type of Study: Original Articles |
Subject:
Hematology
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