Journal Article

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa

Devriendt, Koenraad, Mikobi, Tite Minga, Ngole, Mamy Nzita, Lumbala, Paul Kabuyi, Matthijs, Gert, Van Geet, Chris, Lukusa, Prosper Tshilobo, Mbayabo, Gloire, Lumaka, Aimé, Race, Valerie

2022

Overview

Sickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a uniform response to hydroxurea may not be attained. In view of a potential treatment with hydroxyurea (HU), we assessed the variability of clinical and hematological manifestations in a cohort of adults with SCA in Kinshasa, capital of the DR Congo in Central Africa. A cross-sectional study was conducted in a hospital dedicated to SCA management in Kinshasa. Clinical history of patients was recorded, a complete physical examination performed. The diagnosis was confirmed by means of DNA analysis. A full blood count and hemolysis markers were measured. The severity of the disease was evaluated by means of a previously reported score. The study group consisted of 166 genetically confirmed SCA patients. The SCA severity was mild in 28.9%, moderate in 64.5% and severe in 6.6%. The disease severity score increased with patient's age (p ≤ 0.001). The severity was higher in males compared to females (p = 0.012). In males, the severity score was correlated with the presence of priapism (p = 0.045), a manifestation not previously incorporated in the severity score. The severity score was inversely correlated with the fetal hemoglobin (HbF) rate (p = 0.005). Malnutrition (BMI <18.5 kg/m2) was present in 47% of patients and was related to the male sex, hip disease (aOR 3.11; p = 0.019) and severe phenotype (aOR 3.53; p = 0.012). Leg ulcers were more frequent in males than in females (p = 0.001; OR 24.3) and were correlated with the number of days of hospitalization (p = 0.029). Hip disease was related to the increasing age (p = 0.008). In this selected, hospital-based populations of adults with SCA, severe disease was rare, which may be due to survival bias. However, two thirds had moderate severity of the disease, mostly with a low HbF, and they may benefit from HU treatment. In the Central-African setting the separation between vaso-occlusive and hyperhemolytic sub-phenotypes was not applicable.

• Publisher: Public Library of Science,Public Library of Science (PLoS)
• Subject: Adults / Age / Anemia / Anemia, Sickle Cell / Biology and Life Sciences / Blood / Blood diseases / Care and treatment / Complications / Cross-Sectional Studies / Democratic Republic of the Congo - epidemiology / Deoxyribonucleic acid / DNA / Female / Females / Fetal Hemoglobin - genetics / Fetuses / Genotype & phenotype / Health care access / Health services / Hemoglobin / Hemoglobinopathy / Humans / Hydroxyurea / Hydroxyurea - therapeutic use / Laboratories / Male / Males / Malnutrition / Medicine and Health Sciences / Mortality / Mutation / Patient outcomes / Patients / Phenotypes / Research and Analysis Methods / Sex differences / Sickle cell anemia / Sickle cell disease / Ulcers / Variables