Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran
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Abstract
Background: Alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. The aim of this study was to investigate the spectrum of α-thal mutations among premarital Baluch couples in southeastern Iran.
Subjects and Methods: We assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-PCR) and amplification refractory mutation system (ARMS-PCR).
Results: Of the 1215 participants with mean age of 23±5.7 years, 62.3% lived in urban areas, and the rate of consanguineous marriage was 68.1%. Five mutations were identified, the most frequent one was –α3.7 (rightward) with a frequency of 76.5%, followed by α−5 nt (16.8%), α2/ Codon 19(-G) (4%), –α4.2 (leftward)(2.4%), – –MED (0.3%) among mutated alleles of the α -globin gene.
Conclusion: Knowing the alpha-genotype is helpful for genetic counseling, microcytic anemia discrimination and hemoglobinopathy prevention.
Weatherall D, Clegg J. The β-thalassemia syndromes, Blackwell Scientific publication: Oxford, 2001.
Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012; 2(9): a011692.
Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010; 115(22): 4331-4336.
Higgs DR, Vickers MA, Wilkie AO, et al. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989; 73(5): 1081-1104.
Miri-Moghaddam E, Zadeh-Vakili A, Nikravesh A, et al. Sistani population: a different spectrum of beta-thalassemia mutations from other ethnic groups of Iran. Hemoglobin. 2013; 37(2): 138-147. doi: 10.3109/03630269.2013.769886
Miri-Moghaddam E, Zadeh-Vakili A, Rouhani Z, et al. Molecular basis and prenatal diagnosis of beta-thalassemia among Balouch population in Iran. Prenat Diagn. 2011; 31(8): 788-791. doi: 10.1002/pd.2767
Weatherall DJ. Genetic variation and susceptibility to infection: the red cell and malaria. Br J Haematol. 2008; 141(3): 276-286. doi: 10.1111/j.1365-2141.2008.07085.x
Higgs DR, Weatherall DJ. The alpha thalassaemias. Cellular and molecular life sciences : CMLS 2009; 66(7): 1154-1162. doi: 10.1007/s00018-008-8529-9
Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet journal of rare diseases. 2010; 5: 13. doi: 10.1186/1750-1172-5-13
Stephens AD, Angastiniotis M, Baysal E, et al. ICSH recommendations for the measurement of haemoglobin A2. International journal of laboratory hematology. 2012; 34(1): 1-13. doi: 10.1111/j.1751-553X.2011.01368.x
Sambrook J, Russell DW. Molecular Cloning: A Laboratory Manual, 3rd edn Cold Spring Harbor: Cold Spring Harbor Laboratory, 2001.
Liu YT, Old JM, Miles K, et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000; 108(2): 295-299.
Adorno EV, Couto FD, Moura Neto JP, Menezes JF, Rego M, Reis MG et al. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil. Cad Saude Publica 2005; 21(1): 292-298.
Souza AE, Cardoso GL, Takanashi SY, et al. Alpha-thalassemia (3.7 kb deletion) in a population from the Brazilian Amazon region: Santarem, Para State. Genet Mol Res. 2009; 8(2): 477-481.
Higgs DR, Gibbons RJ. The molecular basis of alpha-thalassemia: a model for understanding human molecular genetics. Hematology/oncology clinics of North America. 2010; 24(6): 1033-1054. doi: 10.1016/j.hoc.2010.08.005
Hossein F, Mohsen R, Mohsen M, et al. Alpha-Thalassemia mutations in two provinces of Southern Iran: Fars and Kohkeloye and Bouyer Ahmad. Hemoglobin 2012; 36(2): 139-143. doi: 10.3109/03630269.2012.657729
Zandian K, Nateghi J, Keikhaie B, et al. Alpha-thalassemia mutations in Khuzestan Province, Southwest Iran. Hemoglobin. 2008; 32(6): 546-552. doi: 10.1080/03630260802532780
Tamaddoni A, Hadavi V, Nejad NH, et al. Alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin. 2009; 33(2): 115-123. doi: 10.1080/03630260902817297
Hadavi V, Jafroodi M, Hafezi-Nejad N, et al. Alpha-thalassemia mutations in Gilan Province, North Iran. Hemoglobin 2009; 33(3): 235-241. doi: 10.1080/03630260903089029
Saleh-Gohari N, Khosravi-Mashizi A. Spectrum of alpha-globin gene mutations in the Kerman Province of Iran. Hemoglobin. 2010; 34(5): 451-460. doi: 10.3109/03630269.2010.511587
Embury SH, Miller JA, Dozy AM, et al. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest. 1980; 66(6): 1319-1325.
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| Issue | Vol 9, No 3 (2015) | |
| Section | Articles | |
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| Alpha thalassemia Baluch Iran mutation prevalence | ||
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