article · Mediterranean Journal of Hematology and Infectious Diseases

Genetic modulators of diversity in biological expression of sickle cell anemia in patients from democratic republic of Congo

Mamy Ngole
Gert Matthijs
Aimé Lumaka
Erika Souche
Paul Kabuyi Lumbala
Prosper Lukusa-Tshilobo
Valérie Race
Chris Van Geet
Nono Mvuama
Gloire Mbayabo
Koenraad Devriendt
Stephanie Deman
Isabelle Cleynen

20242 citationsOpen accessUniversité de Kinshasa (UNIKIN)

Abstract

Background: So far, the fetal hemoglobin (HbF) level is the most recognized modulator of sickle cell anemia (SCA) clinical expression. Variability in the HbF levels is associated with the SCA haplotypes and quantitative trait loci identified by Genome-Wide Association Studies (GWAS). Key words: sickle cell anemia, DR Congo, SCA haplotypes, HbF, single nucleotide polymorphisms

Research topics

Hemoglobinopathies and Related Disorders
Iron Metabolism and Disorders
Prenatal Screening and Diagnostics

Read the original research

This page summarises published work. The authoritative version sits with the publisher.

View on publisher site Record on OpenAlex

DOI: 10.4084/mjhid.2025.001

Is something wrong with this record? Report it or request removal.

Discussion

Discuss this research

Have you built on this work, tried to replicate it, or seen it applied in practice? Share what you know. Verified researchers and MARATTO™ domain experts can open a discussion, and any member can reply. Contributions are reviewed before they appear.

No discussion yet. Open the first thread.

New to MARATTO™? Create a free account.