Abstract
Sickle cell disease (SCD) is one of the most common monogenic disease worldwide. The incidence of SCD is not strictly gender-related as it is transmitted as an autosomal recessive disorder. In particular, the gender-related differences in pediatric SCD are not well-characterized. To address this matter, we retrospectively analyzed the clinical records of 39 pediatric patients with a diagnosis of SCD (hemoglobin SS genotype) focusing on gender differences analyzing various aspects of the disease and comprising both acute symptoms and late complications. We found various gender-related differences in our pediatric population. In particular, pain crisis frequency per year was significantly increased in the male population with a mean number of crisis per year of 1.6 vs. 0.6 in the female population (p = 0.04). Also, severe complications (both infectious and cardiovascular) were mostly found in the male population. SCD-related late cardiac complications were observed mainly in the male population (p = 0.04). Our data support the hypothesis that gender could play a role in determining the clinical course of SCD, even though further studies are needed to assess the exact weight of its influence over the course of the disease. The higher morbidity in males is a well-known feature of SCD in adults and these findings have been only partially studied in the pediatric population. These differences have, in adults, been attributed to hormonal variations found in the two sexes after puberty. In a pediatric population, other factors must be responsible for these discrepancies. These findings suggest that gender could be a valuable factor in the risk stratification of these patients at diagnosis, and possibly guide therapeutic decisions, with the final aim of personalizing the therapy.
Highlights
Sickle cell disease (SCD) is a systemic disease, associated with episodes of acute illness and progressive organ damage, and is one of the most common and severe, monogenic disorder worldwide.The disease is caused by an aminoacidic substitution in the beta-globin gene that leads to the production of an abnormal hemoglobin called HbS
A mutation in the β-globin gene in which the 17th nucleotide is changed from thymine to adenine leading to the substitution of the sixth amino-acid in the β-globin chain, glutamine acid in normal Hb becomes valine in HbS
The variation here described is the most common, the term sickle-cell disease is used to refer to different genotypes that share a similar clinical phenotype: homozygosity for the βS allele (HbS/S), heterozygosis for the βS allele and β-thalassemia (HbS/β), heterozygosity for the βS allele and some hemoglobin variants: HbS/C, HbS/D, HbS/leporeBoston (Ware et al, 2017)
Summary
Sickle cell disease (SCD) is a systemic disease, associated with episodes of acute illness and progressive organ damage, and is one of the most common and severe, monogenic disorder worldwide.The disease is caused by an aminoacidic substitution in the beta-globin gene that leads to the production of an abnormal hemoglobin called HbS. The formation of abnormal HbS is caused by Gender Differences in Pediatric SCD a mutation in the β-globin gene in which the 17th nucleotide is changed from thymine to adenine leading to the substitution of the sixth amino-acid in the β-globin chain, glutamine acid in normal Hb becomes valine in HbS. This structural variation changes the surface of hemoglobin promoting the polymerization of hemoglobin in deoxygenation conditions. The variation here described is the most common, the term sickle-cell disease is used to refer to different genotypes that share a similar clinical phenotype: homozygosity for the βS allele (HbS/S), heterozygosis for the βS allele and β-thalassemia (HbS/β), heterozygosity for the βS allele and some hemoglobin variants: HbS/C, HbS/D, HbS/leporeBoston (Ware et al, 2017)
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