Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes

Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025.

Mamy Ngole^{1

2

3}, Gloire Mbayabo^{1

2

4}, Paul Lumbala^{1

2

4}, Valerie Race¹, Nono Mvuama⁵, Stephanie Deman⁶, Erika Souche⁶, Prosper Tshilobo Lukusa^{2

4}, Chris Van Geet⁷, Koenraad Devriendt¹, Gert Matthijs¹, Aimé Lumaka^{2

4

8}, Isabelle Cleynen¹

¹ Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium.
² Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
³ Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
⁴ Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
⁵ Kinshasa School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
⁶ Genomics Core KULeuven - UZLeuven, Leuven, Belgium.
⁷ Department of Cardiovascular Sciences and Pediatrics (Hemato-oncology), KU Leuven and UZ Leuven, Belgium.
⁸ Service de Génétique Humaine, CHU de Liège, Liège, Belgium.

No abstract available

Keywords: DR Congo; HbF; SCA haplotypes; Sickle cell anemia; Single nucleotide polymorphisms.