Association of HMIP1 C-893A polymorphism and disease severity in patients with sickle cell anemia

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Autor(es): dc.contributorUniversidade Federal de Pernambuco (UFPE)-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorFundação de Hematologia e Hemoterapia de Pernambuco (Hemope)-
Autor(es): dc.contributorInstituto Estadual de Hematologia Arthur de Siqueira Cavalcanti (Hemorio)-
Autor(es): dc.creatorPereira-Martins, Diego A.-
Autor(es): dc.creatorDomingos, Igor F.-
Autor(es): dc.creatorBelini-Junior, Edis [UNESP]-
Autor(es): dc.creatorCoelho-Silva, Juan L.-
Autor(es): dc.creatorWeinhäuser, Isabel-
Autor(es): dc.creatorAraújo, Aderson S.-
Autor(es): dc.creatorLobo, Clarisse L.-
Autor(es): dc.creatorBonini-Domingos, Claudia R. [UNESP]-
Autor(es): dc.creatorBezerra, Marcos A.-
Autor(es): dc.creatorLucena-Araujo, Antonio R.-
Data de aceite: dc.date.accessioned2022-02-22T00:34:58Z-
Data de disponibilização: dc.date.available2022-02-22T00:34:58Z-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2020-12-11-
Data de envio: dc.date.issued2019-12-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.htct.2020.03.006-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/201949-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/201949-
Descrição: dc.descriptionIntroduction: Sickle cell anemia (SCA) is a Mendelian disorder with a heterogeneous clinical course. The reasons for this phenotypic diversity are not entirely established, but it is known that high fetal hemoglobin levels lead to a milder course of the disease. Additionally, genetic variants in the intergenic region HBS1L-MYB promote high levels of fetal hemoglobin into adulthood. Objective: In the present study, we investigated the HMIP1 C-839A (rs9376092) polymorphism, located at the HBS1L-MYB intergenic region block 1, in SCA patients. Method: We analyzed 299 SCA patients followed in two reference centers in Brazil. The HMIP1 C-839A (rs9376092) genotypes were determined by allele specific polymerase chain reactions. Clinical and laboratory data were obtained from patient interviews and medical records. Results: The median fetal hemoglobin levels were higher in patients with the HMIP1 C-839A (rs9376092) AA genotype (CC = 6.4%, CA = 5.6% and AA = 8.6%), but this difference did not reach significance (p = 0.194). No association between HMIP1 C-839A (rs9376092) genotypes and other clinical and laboratorial features was detected (p > 0.05). Conclusion: In summary, our data could not support the previously related association between the HMIP1 C-893A (rs9376092) polymorphism and differential fetal hemoglobin levels.-
Descrição: dc.descriptionUniversidade Federal de Pernambuco (UFPE)-
Descrição: dc.descriptionUniversidade de São Paulo (USP)-
Descrição: dc.descriptionUniversidade Estadual Paulista (Unesp)-
Descrição: dc.descriptionFundação de Hematologia e Hemoterapia de Pernambuco (Hemope)-
Descrição: dc.descriptionInstituto Estadual de Hematologia Arthur de Siqueira Cavalcanti (Hemorio)-
Descrição: dc.descriptionUniversidade Estadual Paulista (Unesp)-
Idioma: dc.languageen-
Relação: dc.relationHematology, Transfusion and Cell Therapy-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectClinical outcome-
Palavras-chave: dc.subjectFetal hemoglobin-
Palavras-chave: dc.subjectHBS1L-MYB polymorphisms-
Palavras-chave: dc.subjectSickle cell anemia-
Título: dc.titleAssociation of HMIP1 C-893A polymorphism and disease severity in patients with sickle cell anemia-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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