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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorALVES, Ademilton Costa
dc.contributor.authorSILVA, Veronica Avena Lisboa da
dc.contributor.authorSANTOS, Alexandro Dos
dc.contributor.authorSERRA, Mariana Barreto
dc.contributor.authorMARQUES, Felipe Albuquerque
dc.contributor.authorCRUZ, Sonia Maria Pereira
dc.contributor.authorBARROSO, Wermerson Assuncao
dc.contributor.authorOLIVEIRA, Raimundo Antonio Gomes de
dc.identifier.citationANNALS OF HEMATOLOGY, v.99, n.6, p.1225-1230, 2020
dc.description.abstractSickle cell anemia (SCA) is the most severe form of sickle cell disease caused by homozygosity of the beta(S)-gene (S/S or beta(S)beta(S)) and has worldwide distribution. Six polymorphic sites in the beta-globin gene cluster were analyzed from a sample of 56 chromosomes of patients with SCA from the state of Maranhao, northeastern Brazil. PCR-RFLP showed that the CAR haplotype was predominant with a frequency of 64.28%, followed by the BEN haplotype (28.57%). Atypical haplotypes were identified at a frequency of 7.15%. Genotypes CAR/CAR, BEN/BEN, and CAR/BEN were present in 46.43%, 10.71%, and 35.71% of patients, respectively. beta-Globin haplotype determination is important not only for the monitoring and prognosis of patients with SCA, but it also serves to inform anthropological studies that contribute to elucidating any peculiarities associated with African influences that contributed to the ethnological, economic, cultural, and social formation of Brazil. The high frequency of the CAR/CAR and CAR/BEN haplotypes in this study, which are associated with low levels of fetal hemoglobin, may ultimately reflect a severe clinical course and poor prognosis in patients with SCA in Maranhao.eng
dc.description.sponsorshipLaboratory of Clinical Research structure of Clinical Research Center (CEPEC) of the University Hospital of UFMA
dc.description.sponsorshipFederal University of Maranhao
dc.description.sponsorshipFinancier of Studies and Projects of the Ministry of Science and Technology (FINEP)
dc.description.sponsorshipMaranhao State Foundation for Research and Scientific and Technological Development (FAPEMA)
dc.description.sponsorshipHEMOMAR (Maranhao Blood Center)
dc.relation.ispartofAnnals of Hematology
dc.subjectSickle cell anemiaeng
dc.subjectHbSS haplotypeseng
dc.subjectHb SS haplotypes from Maranhaoeng
dc.subject.othergene-cluster haplotypeseng
dc.titleSickle cell anemia in the state of Maranhao: a haplotype studyeng
dc.rights.holderCopyright SPRINGEReng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng, Ademilton Costa:Univ Fed Maranhao, Dept Pharm, Lab Hematol, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil, Veronica Avena Lisboa da:Univ Fed Maranhao, Dept Pharm, Lab Hematol, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil, Alexandro Dos:Univ Fed Maranhao, Dept Pharm, Lab Hematol, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil, Felipe Albuquerque:Univ Fed Maranhao, Dept Pharm, Lab Hematol, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil, Sonia Maria Pereira:Univ Fed Maranhao, Dept Med, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil, Raimundo Antonio Gomes de:Univ Fed Maranhao, Dept Pharm, Lab Hematol, Ave Portugueses,1966, Sao Luis 65080805, MA, Brazil; Univ Fed Maranhao, Lab Clin Res CEPEC HUUFMA, Rua Almirante Tamandare,01, Sao Luis 65020600, MA, Brazil
hcfmusp.publisher.cityNEW YORKeng
hcfmusp.publisher.countryUNITED STATESeng
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