Clinical presentation of major sickle cell syndrome in children under 5 years at Kindu hospital environment, Democratic Republic of Congo (DRC)

Sickle cell disease is the most common genetic disorder of hemoglobin in the world today. Screening is the basis of any program aimed at its fight. Faced with the difficulties of implementing screening in countries with limited resources, it is important to resort to alternative strategies, in particular the optimization of clinical suspicion. This study was conducted with the objective of presenting the clinical characteristics of SS sickle cell disease revealed by laboratory screening in pediatric hospitals. A cross-sectional, descriptive study with prospective collection was carried out in 5 health facilities in the city of Kindu in the DRC between December 2, 2019 to October 15, 2020. Our results show that the hospital prevalence of major sickle cell syndrome was 12.7% in the study population. Boys accounted for 53% of cases. The most represented age group was 48 to 59 months with 56.1%. On the clinical level, the examination of our respondents objectified a malnutrition in 36.8% of cases, the presence of frontal bumps in 10.5% of cases, lymphadenopathy in 10.5% of cases, hypertrophy of the tonsils. in 8.8% of cases, conjunctival jaundice in 35.1% of cases, hepatomegaly in 7.0% of cases and splenomegaly in 21.1% of cases. There are significant associations between certain epidemiological characteristics studied in homozygous SS subjects, in particular the age of 48 to 59 months with jaundice (p = 0.012) and splenomegaly (p = 0.028), undernutrition with jaundice (p = 0.037) and the presence of lymphadenopathy (p = 0.013), presence of frontal lumps with enlarged tonsils (p = 0.0001) and hepatomegaly (p = 0.008), splenomegaly with jaundice (p = 0.001) and presence of lymphadenopathy (p = 0.004) and finally hepatomegaly and the presence of lymphadenopathy (p = 0.008). In short, it emerges that many children with major sickle cell syndrome have a less expressive clinical presentation. This is probably linked to the fact that at this age they still have a level of hemoglobin F sufficient to attenuate the impact of hemoglobin S. The associations observed between various clinical parameters show that it is possible to develop a clinic score that can guide the suspicion of the disease and motivate a biological screening.