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Updated: Sep 25, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Children with sickle cell disease and severe COVID-19 presenting single nucleotide polymorphisms in innate immune
Natália Lima Pessoa1,2, Lilian Martins Oliveira Diniz3,4, Adriana de Souza Andrade2
1Laboratório de Vírus Departamento de Microbiologia Instituto de Ciências Biológicas Universidade Federal de Minas Gerais Belo Horizonte Brazil.
Insights
Severe COVID-19 in children with sickle cell disease (SCD) led to serious complications, including acute chest syndrome and pain crises. Genetic factors like single nucleotide polymorphisms in TLR-7 and TIRAP may influence these severe outcomes.
Area of Science:
- Pediatric Hematology
- Infectious Diseases
- Genetics
Background:
- Sickle cell disease (SCD) is a genetic blood disorder that can increase susceptibility to infections and complications.
- The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has impacted various patient populations, including those with SCD.
- Understanding the interplay between SCD, COVID-19, and genetic factors is crucial for managing severe cases in children.
Observation:
- Three pediatric cases of severe COVID-19 in children with SCD are presented, detailing complications during and after hospitalization.
- These patients experienced significant SCD-related issues such as acute chest syndrome, splenic sequestration, and pain crises.
- Genetic analysis revealed single nucleotide polymorphisms in the TLR-7 and TIRAP genes in these children.
Findings:
- Children with SCD experiencing severe COVID-19 are at high risk for serious complications.
- Specific genetic variations, including in TLR-7 and TIRAP, were observed in children with SCD and severe COVID-19.
- These complications necessitated interventions like red blood cell transfusions and specialized hospital care.
Implications:
- The findings highlight the potential role of genetic factors in the severity of COVID-19 among children with SCD.
- Early identification and monitoring of genetic predispositions may aid in predicting and managing severe COVID-19 outcomes in pediatric SCD patients.
- This study underscores the importance of comprehensive care for children with SCD, especially during infectious disease outbreaks.
Abstract:
Here we report three clinical cases of children with sickle cell disease (SCD) and severe COVID-19 who evolved with complications during hospitalization or after discharge. They present single nucleotide polymorphisms in tlr-7 and tirap genes, identified from 37 patients under 16 years old hospitalized from September 2020 to May 2021 in the Hospital João Paulo II, Belo Horizonte, Brazil. They presented significant complications of SCD as acute chest syndrome, splenic sequestration, and pain crisis during hospitalization or up to 2 months after SARS-CoV-2 infection. They all required transfusion of concentrated red blood cells and hospitalization in a reference hospital to care for children with SCD.
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