Evidence map›Paper›PMID 42207357›Full record

ArticleMolecular biology reports2026

Genetic variants in red blood cell adhesion-related genes influence the severity of sickle cell anemia in a malaria-endemic region : Short title: Genetic variants in red blood cell adhesion-related genes in sickle cell anemia.

Irina Matos, Brígida Santos, Elisângela Gonçalves, Pedro Lopes, Miguel Brito, Ana Paula Arez, Paula Faustino

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Article in Molecular biology reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Irina MatosInstituto Nacional de Saúde Doutor Ricardo Jorge, I.P. (INSA), Avenida Padre Cruz, Lisbon, 1649-016, Portugal.
Brígida SantosCentro de Investigação em Saúde de Angola (CISA), Caxito, Angola.
Elisângela GonçalvesGlobal Health and Tropical Medicine (GHTM), LA-REAL, Instituto de Higiene e Medicina Tropical (IHMT), UNL, Lisbon, Portugal.
Pedro LopesInstituto Nacional de Saúde Doutor Ricardo Jorge, I.P. (INSA), Avenida Padre Cruz, Lisbon, 1649-016, Portugal.
Miguel BritoCentro de Investigação em Saúde de Angola (CISA), Caxito, Angola.
Ana Paula Arez *Global Health and Tropical Medicine (GHTM), LA-REAL, Instituto de Higiene e Medicina Tropical (IHMT), UNL, Lisbon, Portugal.
Paula Faustino *Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P. (INSA), Avenida Padre Cruz, Lisbon, 1649-016, Portugal. paula.faustino@insa.min-saude.pt.ORCID http://orcid.org/0000-0002-6269-4867

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSickle cell anemia (SCA) is a genetic disease marked by abnormal hemoglobin S and sickle-shaped red blood cells. It is highly prevalent in sub-Saharan Africa, especially in Angola, where SCA and malaria are major causes of childhood mortality. This study aimed to explore whether genetic variants in genes associated with red blood cell adhesion to the vascular endothelium influence the manifestations of SCA in Angolan pediatric patients in the context of malaria. METHODS AND

resultsThe study enrolled 65 pediatric SCA patients living in Luanda or Caxito. Their clinical, hematological, and biochemical profiles were monitored through longitudinal pediatric follow-up appointments. Fifteen polymorphic sites were genotyped in CD36 and ICAM-1 genes using PCR, Sanger sequencing, and fragment analysis by capillary electrophoresis. Malaria infection was evaluated by detecting Plasmodium species DNA through PCR analysis of blood spot samples. The CD36 variant rs3211891_C is revealed for the first time as a potential modulator of anemia severity in SCA. Additionally, the CD36 variant rs3211938_G, along with the ICAM-1 variants rs5491_T and rs5496_A, significantly impacted the severity of the hematological phenotype in SCA. Furthermore, SCA patients carrying the ICAM-1 rs5494_T variant showed a 5.63-fold increased risk of having malaria infection compared to those with the wild-type genotype.

conclusionsThis study enhances our understanding of genetic modifiers of red blood cell adhesion to the vascular endothelium and their influence on the severity of pediatric SCA in the context of frequent concomitant malaria infection in Angola.

Indexed as

Anemia, Sickle CellCD36 AntigensIntercellular Adhesion Molecule-1MalariaAdolescentAngolaCell AdhesionChildChild, PreschoolErythrocytesFemaleGenetic VariationGenotypeHumansMalePolymorphism, Single NucleotideCD36 AntigensCD36 protein, humanICAM1 protein, humanIntercellular Adhesion Molecule-1AngolaCD36Genetic modifiersICAM-1MalariaSickle cell anemia

Identifiers

PMID42207357
PMCPMC13219069

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