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
de En
| LILACS
| ID: biblio-1346265
Bibliothèque responsable:
BR408.1
Localisation: 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.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
LILACS
Sujet principal:
Hémoglobine foetale
/
Drépanocytose
Type d'étude:
Risk_factors_studies
Limites:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Langue:
En
Journal:
Hematol., Transfus. Cell Ther. (Impr.)
Sujet du journal:
Hematologia
/
TransfusÆo de Sangue
Année:
2021
Type de document:
Article
Pays d'affiliation:
Brésil