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Journal Article Epublish 62 citations

PubMed: 31867340 DOI: 10.3389/fmolb.2019.00140

Gender-Related Differences in Sickle Cell Disease in a Pediatric Cohort: A Single-Center Retrospective Study.

Front Mol Biosci 6:140

Authors: Giulia Ceglie, Margherita Di Mauro, Isabella Tarissi De Jacobis, Francesca de Gennaro, Martina Quaranta, Carlo Baronci, Alberto Villani, Giuseppe Palumbo

Affiliations

  • Department of Onco-Hematology and Cell and Gene Therapy, Scientific Institute for Research and Healthcare (IRCCS), Childrens' Hospital Bambino Gesù, Rome, Italy.
  • University Department of Pediatrics, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy.
  • Pediatric and Infectious Disease Unit, Bambino Gesù Children's Hospital, Scientific Institute for Research and Healthcare (IRCCS), Childrens' Hospital Bambino Gesù, Rome, Italy.
  • Department of Onco-Hematology and Cell and Gene Therapy, Scientific Institute for Research and Healthcare (IRCCS), Childrens' Hospital Bambino Gesù, Rome, Italy. University Department of Pediatrics, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, Rome, Italy.

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 ( = 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 ( = 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.

MeSH

Cells, Anemia, Sickle Cell, Retrospective Studies, Diagnosis, Therapeutics, Hemoglobinopathies

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