Prevalence Of α-thalassemia 3.7 Kb Deletion In The Adult Population Of Rio Grande Do Norte, Brazil

dc.creatorAlcoforado G.H.M.
dc.creatorBezerra C.M.
dc.creatorLemos T.M.A.M.
dc.creatorde Oliveira D.M.
dc.creatorKimura E.M.
dc.creatorCosta F.F.
dc.creatorde Fatima Sonati M.
dc.creatorde Medeiros T.M.D.
dc.date2012
dc.date2015-06-29T12:58:45Z
dc.date2015-11-26T14:33:05Z
dc.date2015-06-29T12:58:45Z
dc.date2015-11-26T14:33:05Z
dc.date.accessioned2018-03-28T21:36:29Z
dc.date.available2018-03-28T21:36:29Z
dc.identifier
dc.identifierGenetics And Molecular Biology. , v. 35, n. 3, p. 594 - 598, 2012.
dc.identifier14154757
dc.identifier10.1590/S1415-47572012005000049
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84865395986&partnerID=40&md5=44421967526fed1ed0b1e0c42a7a7ddb
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/97489
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/97489
dc.identifier2-s2.0-84865395986
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1247774
dc.descriptionα-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A 2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α 3.7/αα) deletions and 1 (0.1%) homozygous (-α 3.7/-α 3.7). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hematological parameters between individuals with normal genotype and those with heterozygous α +-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A 2 (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia. © 2012, Sociedade Brasileira de Genética. Printed in Brazil.
dc.description35
dc.description3
dc.description594
dc.description598
dc.descriptionAdorno, E.V., Couto, F.D., Moura Neto, J.P., Menezes, J.F., Rêgo, M., Reis, M.G., Gonçalves, M.S., Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil (2005) Cad Saúde Pública, 21, pp. 292-298
dc.descriptionBezerra, C.M., Meissner, R.V., Diagnóstico molecular da talassemia alfa + (deleção-( 3.7) em indivíduos com microcitose e/ou hipocromia atendidos no Hemocentro Dalton Barbosa Cunha em Natal, Rio Grande do Norte (2010) Rev Bras Hematol Hemoter, 32, pp. 90-91. , (Abstract in English)
dc.descriptionBorg, J., Georgitsi, M., Aleporou-Marinou, V., Kollia, P., Patrinos, G.P., Genetic recombination as a major cause of mutagenesis in the human globin gene clusters (2009) Clin Biochem, 42, pp. 1839-1850
dc.descriptionBorges, E., Wenning, M.R.S.C., Kimura, E.M., Gervásio, S.A., Costa, F.F., Sonati, M.F., High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia (2001) Braz J Med Biol Res, 34, pp. 759-762
dc.descriptionCascudo, L.C., (1984) História do Rio Grande do Norte, p. 524. , 2 edition. Fundação José Augusto, Natal
dc.descriptionCouto, F.D., Albuquerque, A.B.L., Adorno, E.V., Moura Neto, J.P., Freitas, A.L., Oliveira, J.L.B., Reis, M.G., Gonçalves, M.S., Alpha-thalassemia-2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: A molecular and hematological analysis (2003) Clin Lab Haematol, 25, pp. 29-34
dc.descriptionDacie, J.V., Lewis, S.M., (1995) Practical Haematology., p. 608. , Churchill Livingstone, Edinburgh
dc.descriptionDodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of-α 3.7 thalassaemia and ttt anti3.7 triplication by enzymatic amplification analysis (1992) Br J Haematol, 83, pp. 105-111
dc.descriptionHarteveld, L.C., Higgs, D.R., H-thalassaemia (2010) Orphanet J Rare Dis, 5, pp. 1-21
dc.descriptionHiggs, D.R., H-Thalassaemia (1993) Baillière's Clin Haematol, 6, pp. 117-150
dc.descriptionHiggs, D.R., The pathopysiology and clinical features of H thalassemia (2009) Disorders of Hemoglobin, pp. 266-295. , In: Steinberg MH, Forget BG, Higgs DR and Weatherall DJ (eds) 2 nd edition. Cambridge University Press, New York
dc.descriptionHiggs, D.R., Weatherall, D.J., The alpha thalassaemias (2009) Cell Mol Life Sci, 66, pp. 1154-1162
dc.descriptionMouélé, R., Pambou, O., Feingold, J., Galactéros, F., M-thalassemia in Bantu population from Congo-Brazzaville: Its interaction with sickle cell anemia (2000) Hum Hered, 50, pp. 118-125
dc.descriptionPeres, M.J., Romão, L., Carreiro, H., Picanço, I., Batalha, L., Magalhães, H.A., Martins, M.C., Lavinha, J., Molecular basis of H-thalassemia in Portugal (1995) Hemoglobin, 19, pp. 343-352
dc.descriptionRahim, F., Microcytic hypochromic anemia patients with thalassemia: Genotyping approach (2009) J Med, 63, pp. 101-108
dc.descriptionSankar, V.H., Arya, V., Tewari, D., Gupta, U.R., Pradhan, M., Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India (2006) Indian J Med Res, 47, pp. 391-395
dc.descriptionSonati, M.F., Farah, S.B., Ramalho, A.S., Costa, F.F., High prevalence of alpha-thalassemia in a black population of Brazil (1991) Hemoglobin, 15, pp. 309-311
dc.descriptionSouza, A.E.S., Takanashi, S.Y.L., Cardoso, G., Guerreiro, J.F., S-thalassemia (3.7 kb deletion) in a population from the Brazilian Amazon region: Santarém, Pará State (2009) Genet Mol Res, 8, pp. 477-481
dc.descriptionSteinberg, M.H., Nagel, R.L., Hemoglobins of the embryo, fetus and adult (2009) Disorders of Hemoglobin, pp. 119-135. , In: Steinberg MH, Forget BG, Higgs DR and Weatherall DJ (eds) 2 nd edition. Cambridge University Press, New York
dc.descriptionWagner, S.C., Castro, S.M., Gonzalez, T.P., Santin, A.P., Filippon, L., Zaleski, C.F., Azevedo, L.A., Hutz, M., Prevalence of common c-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia (2010) Genet Mol Biol, 33, pp. 641-645
dc.descriptionWeatherall, D.J., Clegg, J.B., Inherited haemoglobin disorders: An increasing global health problem (2001) Bull World Health Organ, 79, pp. 704-712
dc.languageen
dc.publisher
dc.relationGenetics and Molecular Biology
dc.rightsaberto
dc.sourceScopus
dc.titlePrevalence Of α-thalassemia 3.7 Kb Deletion In The Adult Population Of Rio Grande Do Norte, Brazil
dc.typeArtículos de revistas


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