Association of HMIP1 C-893A polymorphism and disease severity in patients with sickle cell anemia
Hematol., Transfus. Cell Ther. (Impr.)
;
43(3): 243-248, July-Sept. 2021. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1346265
ABSTRACT
Abstract Introduction: 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Hemoglobina Fetal
/
Anemia Falciforme
Tipo de estudo:
Fatores de risco
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Hematol., Transfus. Cell Ther. (Impr.)
Assunto da revista:
Hematologia
/
TransfusÆo de Sangue
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Fundação de Hematologia e Hemoterapia de Pernambuco - HEMOPE/BR
/
Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti - HEMORIO/BR
/
Universidade Estadual Paulista - UNESP/BR
/
Universidade Federal de Pernambuco - UFPE/BR
/
Universidade de São Paulo - FMUSP/BR
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