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
Article
in English
| LILACS
| ID: biblio-1346265
Responsible library:
BR408.1
Localization: BR408.1
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Fetal Hemoglobin
/
Anemia, Sickle Cell
Type of study:
Risk factors
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Hematol., Transfus. Cell Ther. (Impr.)
Journal subject:
Hematologia
/
TransfusÆo de Sangue
Year:
2021
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
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