Scientific Letters
Vol. 17 No. 1 (2025): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
https://doi.org/10.4084/MJHID.2025.001

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

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Received: April 19, 2024
Accepted: November 5, 2024
Published: December 31, 2024
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sickle cell anemia, DR Congo, SCA haplotypes, HbF, single nucleotide polymorphisms

Authors

MAMY NGOLE
a:1:{s:5:"en_US";s:68:"Center for Human Genetics/Faculty of Medicine/University of Kinshasa";}, Congo, The Democratic Republic of the.
MAMY NGOLE
https://orcid.org/0000-0002-1041-9257
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_ Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Congo, The Democratic Republic of the.
GLOIRE MBAYABO
https://orcid.org/0000-0002-6887-4092
1Center for HCenter for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo _Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo _ Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Congo, The Democratic Republic of the.
PAUL LUMBALA
2Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_4Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo _ Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Congo, The Democratic Republic of the.
VALERIE RACE
1Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
NONO MVUAMA
Kinshasa School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo , Congo, The Democratic Republic of the.
STEPHANIE DEMAN
Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
ERIKA SOUCHE
Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
PROSPER TSHILOBO LUKUSA
2Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_4Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo , Congo, The Democratic Republic of the.
CHRIS VAN GEET
1Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
KOENRAAD DEVRIENDT
Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
GERT MATTHIJS
Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.
AIME LUMAKA
aime.lumaka@unikin.ac.cd
https://orcid.org/0000-0002-5468-8678
2Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_ 4Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo _ , Congo, The Democratic Republic of the.
ISABELLE CLEYNEN
Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium , Belgium.

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

 

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Ethics Approval

Contributions to the manuscript of each author Mamy Ngole: designed the project, performed part of laboratory analysis and prepared the manuscript Gloire Mbayabo: conducted patients’ recruitment Paul Lumbala: conducted patients’ recruitment Valerie Race: designed the project, supervised laboratory analysis and corrected the manuscript Nono Mvuama: performed data analysis Stephanie Deman: performed sequencing analysis Erika Souche: performed sequencing data analysis Prosper Tshilobo Lukusa: designed the project and corrected the manuscript Chris Van Geet: designed the project and corrected the manuscript Koenraad Devriendt: designed the project, supervised the laboratory analysis and corrected the manuscript Gert Matthijs: designed the project , supervised the laboratory analysis and corrected the manuscript Aimé Lumaka: designed the project , supervised the laboratory analysis and corrected the manuscript Isabelle Cleynen: performed sequencing data analysis and corrected the manuscript All authors read and approved the final manuscript., Competing interests: The authors declare no conflict of Interest

Supporting Agencies

This research was fully supported by VLIR- UOS under the grant “Initiatives Sud et projets TEAM 2015”
MAMY NGOLE, Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo_ Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium

Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo (Laboratory supervisor)

Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo (Laboratory supervisor)

Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium (PhD student)

How to Cite



“Genetic modulators of diversity in biological expression of sickle cell anemia in patients from democratic republic of Congo” (2024) Mediterranean Journal of Hematology and Infectious Diseases, 17(1), p. e2025001. doi:10.4084/MJHID.2025.001.
Copyright (c) 2024 MAMY NGOLE, MAMY NGOLE, GLOIRE MBAYABO, PAUL LUMBALA, VALERIE RACE, NONO MVUAMA, STEPHANIE DEMAN, ERIKA SOUCHE, PROSPER TSHILOBO LUKUSA, CHRIS VAN GEET, KOENRAAD DEVRIENDT, GERT MATTHIJS, AIME LUMAKA, ISABELLE CLEYNEN Creative Commons License

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