The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.

dc.creatorAdorno, Elisângela Vitória
dc.creatorZanette, Angela Maria Dias
dc.creatorLyra, Isa
dc.creatorSouza, Cyntia Cajado
dc.creatorSantos, Leandro Ferraz
dc.creatorMenezes, Joelma Figueiredo
dc.creatorDupuit, Marie France
dc.creatorAlmeida, Mari Ney Tavares
dc.creatorReis, Mitermayer Galvão dos
dc.creatorGonçalves, Marilda de Souza
dc.date2016-05-05T13:47:33Z
dc.date2016-05-05T13:47:33Z
dc.date2004
dc.date.accessioned2023-09-26T21:54:44Z
dc.date.available2023-09-26T21:54:44Z
dc.identifierADORNO, E. V. et al. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Hemoglobin, v. 28, n. 3, p. 267-271, 2004.
dc.identifier0363-0269
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/14097
dc.identifier10.1081/HEM-120040310
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8874022
dc.descriptionThe beta(S)-globin haplotypes were studied in 78 sickle cell Brazilian patients from Bahia, Northeast Brazil, that has a large population of African origin. Hemoglobin (Hb) profiles were developed by high-performance liquid chromatography (HPLC), and beta(S)-globin gene haplotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. We identified 44 (55.0%) patients with the CAR/Ben (Central African Republic/Benin) genotype, 16 (20.0%) Ben/Ben, 13 (16.2%) CAR/CAR and seven (8.8%) with other genotypes. Analyses of the phenotypes showed clinical differences related only to Hb F levels and blood transfusion therapy; the presence of -alpha(-3.7)-thalassemia (thal) demonstrated statistical significance when associated with hematocrit (p=0.044), MCV (p=0.0007), MCH (p=0.012) and spleen sequestration events. The haplotype diversity found in the present study can be justified by information about the origin of the slave traffic period in Bahia during the 19th century. The specific characteristics described among the Bahian sickle cell patients could be confirmed by increasing the number of patients with specific genotypes and further studies of genetic markers.
dc.formatapplication/pdf
dc.languageeng
dc.publisherInforma Healthcare
dc.rightsopen access
dc.subjectb-Globin haplotypes
dc.subjectSickle cell anemia
dc.subjectNortheast Brazil
dc.subjectSlave trade
dc.subjectAnemia Falciforme/genética
dc.subjectGlobinas/genética
dc.subjectHaplotipos/genética
dc.subjectFamília Multigênica/genética
dc.subjectAnemia Falciforme/sangue
dc.subjectBrasil
dc.subjectCromatografia Líquida de Alta Pressão
dc.subjectCromatografia Líquida de Alta Pressão
dc.subjectHemoglobina Fetal/genética
dc.subjectGenótipo
dc.subjectGlobinas/análise
dc.subjectHemoglobinas Anormais/análise
dc.subjectReação em Cadeia da Polimerase
dc.subjectPolimorfismo de Fragmento de Restrição
dc.titleThe beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view.
dc.typeArticle


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