Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province
Keywords:
Alpha-thalassemia; Mutation; Gene Deletion; PrevalenceAbstract
Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results: The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was –α3.7/αα, which was similar to other places in Iran.References
Harteveld CL, Higgs DR. α-thalassaemia. Orphanet journal of rare diseases. 2010;5(1):13. https://doi.org/10.1186/1750-1172-5-13 PMid: 20507641 PMCid: PMC2887799 2)Basha B, Mularo F, Cook JR. Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis. Hemoglobin. 2017;41(2):124-30. https://doi.org/10.1080/03630269.2017.1327868 PMid: 28595507 3)Ruiz-Roca JA, Oñate-Sánchez RE, Urrutia-Rodríguez I, Martínez-Izquierdo A, Mengual-Pujante D, Rodríguez-Lozano FJ. Clinical management of the homozygous α-thalassemia with unusual mandibular manifestation of hematopoiesis. Journal of stomatology, oral and maxillofacial surgery. 2017;118(1):49-51. https://doi.org/10.1016/j.jormas.2016.12.007 PMid: 28330575 4)Chan V, Ng EH, Yam I, Yeung WS, Ho PC, Chan TK. Experience in preimplantation genetic diagnosis for exclusion of homozygous α° thalassemia. Prenatal diagnosis. 2006 Nov 1;26(11):1029-36. https://doi.org/10.1002/pd.1550 PMid: 16941716 5)Eftekhari H, Tamaddoni A, MahmoudiNesheli H, Vakili M, Sedaghat S, Banihashemi A, et al. A comprehensive molecular investigation of α-thalassemia in an Iranian cohort from different provinces of North Iran. Hemoglobin. 2017 Jan 2;41(1):32-7. https://doi.org/10.1080/03630269.2017.1299753 PMid: 28385057 6)Guvenc B, Yildiz SM, Tekinturhan F, Dincer S, Akyuzluer I, Okten S, et al. Molecular characterization of α-thalassemia in Adana, Turkey: a single center study. Actahaematologica. 2010;123(4):197-200. https://doi.org/10.1159/000302203 PMid: 20332613 7)Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harbor perspectives in medicine. 2013 May 1;3(5):a011742. https://doi.org/10.1101/cshperspect.a011742 PMid: 23543077 PMCid: PMC3633183 8)Kamal M, Abu-Sirriya S, Abu-Dayya A, Al-Khatib H, Abu-Ramadan H, Petrou M, et al. The Molecular Basis of α-Thalassemia in the Qatari Pediatric Population. Hemoglobin. 2015 Sep 3;39(5):350-4. https://doi.org/10.3109/03630269.2015.1060606 PMid: 26161810 9)Huang Q, Wang X, Tang N, Yan T, Chen P, Li Q. Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis. The Journal of Molecular Diagnostics. 2017 Jul 1;19(4):567-74. https://doi.org/10.1016/j.jmoldx.2017.04.003 PMid: 28506685 10)Vichinsky EP. Changing patterns of thalassemia worldwide. Annals of the New York Academy of Sciences. 2005 Nov;1054(1):18-24. https://doi.org/10.1196/annals.1345.003 PMid: 16339647 11)Higgs DR, Gibbons RJ. The molecular basis of α-thalassemia: a model for understanding human molecular genetics. Hematology/oncology clinics. 2010 Dec 1;24(6):1033-54. https://doi.org/10.1016/j.hoc.2010.08.005 PMid: 21075279
Origa R, PagliettiME, Sollaino MC, Desogus MF, Barella S, Loi D, et al. Complexity of the alpha-globingenotypes identified with thalassemia screening in Sardinia. Blood Cells, Molecules, and Diseases. 2014 Jan 1;52(1):46-9. https://doi.org/10.1016/j.bcmd.2013.06.004 PMid: 23896219 13)Karakaş Z, Koç B, Temurhan S, Elgün T, Karaman S, Asker G, et al. Evaluation of alpha-thalassemia mutations in cases with hypochromic microcytic anemia: the Istanbul perspective. Turkish Journal of Hematology. 2015 Dec;32(4):344. https://doi.org/10.4274/tjh.2014.0204 PMid: 26377141 PMCid: PMC4805326 14)Valaei A, Karimipoor M, Kordafshari A, Zeinali S. Molecular Basis of α-Thalassemia in Iran. Iran Biomed J. 2018 Jan;22(1):6-14. doi: 10.22034/ibj.22.1.6. PMID: 29115104; PMCID: PMC5712386. 15)Keikhaei B, Slehi-Fard P, Shariati G, Khosravi A. Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. Biochemical genetics. 2018 Oct 1;56(5):506-21. https://doi.org/10.1007/s10528-018-9857-6 PMid: 29627922 16)Hashemieh M, Naghadeh HT, Namini MT, Neamatzadeh H, Dehshal MH. The Iran thalassemia prevention program: success or failure?. Iranian journal of pediatric hematology and oncology. 2015;5(3):161. 17)Derakhshan SM, Khaniani MS, Afkhami F, PourFeizi AH. Molecular study of deletional and nondeletional mutations on the α-globin locus in the Azeri population of Northwestern Iran. Hemoglobin. 2016 Sep 2;40(5):319-22. https://doi.org/10.1080/03630269.2016.1240688 PMid: 27690152 18)Cornelis L Harteveld and Douglas R Higgs. α-thalassaemia. Orphanet J Rare Dis. 2010; 5: 13. doi: 10.1186/1750-1172-5-13. https://doi.org/10.1186/1750-1172-5-13 PMid: 20507641 PMCid: PMC2887799 19)Al Mekaini LA, Denic S, Al Jabri ON, Narchi H, Souid AK, Al-Hammadi S. Red cell parameters in infant and children from the Arabian Peninsula. American journal of blood research. 2015;5(2):101. 20)Hall FW, Lundgrin DB. Screening for Aipha-Thaiassemia in Neonates: Routine Erythrocyte Measurements. American journal of clinical pathology. 1987 Mar 1;87(3):389-91. https://doi.org/10.1093/ajcp/87.3.389 PMid: 382600521)Al-Hilali AM, Al-Jallaf AM, Chunkasseril S. Confirmation of the validity of using birth MCV for the diagnosis of alpha thalassemia trait. Hematology Reviews. 2009 Jul 1;1(2). https://doi.org/10.4081/hr.2009.e20 PMCid: PMC3222257 22)Tritipsombut J, Sanchaisuriya K, Fucharoen S, Fucharoen G, Siriratmanawong N, Pinmuang-ngam C, Sanchaisuriya P. Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of α-thalassemia 1 and Hemoglobin E. Archives of pathology & laboratory medicine. 2008 Nov;132(11):1739-45. 23)Tritipsombut J, Sanchaisuriya K, Fucharoen S, Fucharoen G, Siriratmanawong N, Pinmuang-ngam C, et al. Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of α-thalassemia 1 and Hemoglobin E. Archives of pathology & laboratory medicine. 2008 Nov;132(11):1739-45. 24)Velasco-Rodríguez D, Blas C, Alonso-Domínguez JM, Vega G, Soto C, García-Raso A, et al. Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. International journal of molecular sciences. 2017 Dec 13;18(12):2707. https://doi.org/10.3390/ijms18122707 PMid: 29236053 PMCid: PMC5751308 25)Galanello R, Cao A. Alpha-thalassemia. Genetics in medicine. 2011 Feb;13(2):83. https://doi.org/10.1097/GIM.0b013e3181fcb468 PMid: 21381239 26)Alauddin H, Langa M, Mohd Yusoff M, Raja Sabudin RZA, Ithnin A, Abdul Razak NF and et al. Detection of α-thalassaemia in neonates on cord blood and dried blood spot samples by capillary electrophoresis. The Malaysian journal of pathology. 2017 Apr 1;39(1):17. 27)Wu MY, Xie XM, Li J, Li DZ. Neonatal screening for α‐thalassemia by cord hemoglobin Barts: how effective is it?. International journal of laboratory hematology. 2015 Oct;37(5):649-53. https://doi.org/10.1111/ijlh.12376 PMid: 25955662
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