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

Diego A Pereira-Martins1, Igor F Domingos2, Edis Belini-Junior3

  • 1Universidade Federal de Pernambuco (UFPE), Recife, SP, Brazil; Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil.

Hematology, Transfusion and Cell Therapy
|July 16, 2020
PubMed
Abstract

Insights

This study found no significant association between the HMIP1 C-839A polymorphism and fetal hemoglobin levels in sickle cell anemia patients. Further research is needed to understand the genetic factors influencing sickle cell anemia

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Sickle cell anemia (SCA) exhibits variable clinical severity, influenced by fetal hemoglobin (HbF) levels.
  • Genetic variants in the HBS1L-MYB intergenic region are known to affect adult HbF levels.

Purpose of the Study:

  • To investigate the association of the HMIP1 C-839A (rs9376092) polymorphism with HbF levels and clinical features in SCA patients.
  • To explore the role of this specific genetic variant in the phenotypic diversity of SCA.

Main Methods:

  • Genotyping of the HMIP1 C-839A (rs9376092) polymorphism using allele-specific PCR.
  • Analysis of 299 SCA patients from two Brazilian reference centers.
  • Collection of clinical and laboratory data through interviews and medical records.

Main Results:

  • Median HbF levels were slightly higher in patients with the AA genotype (8.6%) compared to CC (6.4%) and CA (5.6%), but this difference was not statistically significant (p=0.194).
  • No significant associations were found between the HMIP1 C-839A genotypes and other clinical or laboratory features of SCA (p>0.05).

Conclusions:

  • The study did not find evidence to support a link between the HMIP1 C-893A (rs9376092) polymorphism and varying fetal hemoglobin levels in sickle cell anemia.
  • The genetic factors contributing to the diverse clinical presentation of SCA remain incompletely understood.
Keywords:
Clinical outcomeFetal hemoglobinHBS1L-MYB polymorphismsSickle cell anemia

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