A Road To Molecular Disease Of Childhood—Sickle Cell Disease Cases Series

Abstract

Sickle cell disease (SCD) is a hereditary hemoglobin disorder commonly presenting during childhood. It results from a point mutation in the β-globin gene, leading to the substitution of a single amino acid within the hemoglobin molecule. Inheritance follows an autosomal recessive pattern. According to estimates from the World Health Organization, hemoglobinopathies affect nearly 15% of the global population. The worldwide incidence of homozygous SCD is approximately 170 cases per 100,000 live births, with the highest prevalence observed in Africa, where the incidence reaches about 1,125 cases per 100,000 live births.

The present study describes a series of pediatric and adolescent patients diagnosed with sickle cell disorders, focusing on their clinical presentation, associated complications, and treatment strategies. Fetal hemoglobin (HbF), which consists of two alpha and two gamma globin chains, differs  structurally from adult hemoglobin (HbA), composed of two alpha and two beta globin chains. HbF plays a protective role by reducing red blood cell sickling under stressful physiological conditions. Because HbF levels remain relatively high during early infancy and gradually decline after birth, symptoms of SCD generally become evident after six months of age. In settings where neonatal screening programs are unavailable, diagnosis is frequently delayed until clinical manifestations appear.

This study highlights the clinicopathological spectrum of sickle cell disease and emphasizes current diagnostic and management approaches for affected patients.