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

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 pat

SUBMITTER: Pereira-Martins DA 

PROVIDER: S-EPMC8446232 | biostudies-literature | 2021 Jul-Sep

REPOSITORIES: biostudies-literature