Background: Sickle cell disease (SCD) remains one of
the most prevalent genetic disorders in Sub Saharan Africa. Beyond the
well-documented hematological and infectious complications, the concept of a
“sickle cell facies” has been long discussed by clinicians. However, this
clinical impression has rarely been substantiated by scientific studies,
particularly in the Congolese context.
Aim: This research aimed to determine whether
measurable differences in growth and facial morphology could distinguish
homozygous sickle cell children (HbSS) from their healthy peers (AA).
Methodology: We conducted a case-control study in
Lubumbashi and Kinshasa, involving 85 children with confirmed homozygous sickle
cell disease (HbSS) and 425 healthy AA controls, aged 6–13 years. Data
collected included height, weight, head circumference, and various craniofacial
measurements (nose, face, ears). Measurements were taken using standardized
photo-anthropometry and analyzed statistically by comparing means, with a
significance threshold set at p<0.05.
Results: Children with sickle cell disease presented
with growth retardation from an early age. Their head circumference was smaller
than that of the controls until age 8, after which this difference diminished.
Morphologically, they had a wider and higher nose, with a significantly
increased nasal index. Their faces were generally taller and wider, and their
ears were also larger in height and width compared to the healthy children.
Conclusion: This study highlights the existence of a
distinct morphological profile in Congolese children with sickle cell disease,
confirming the clinical intuition of a “sickle cell facies.” These
characteristics could, in the long term, enrich diagnostic tools and guide screening
in settings where access to biological exams remains limited.