{
  "abstract": "Background: Beta-globin (HBB) S haplotypes are associated with different African ethnic groups and the severity of Sickle Cell Disease (SCD). The African populations also exhibit a high prevalence of RH variants, which can induce alloimmunization, particularly in SCD patients undergoing transfusion therapy. However, the correlation between HBB S haplotypes and RH variants is not well explored. Objectives: This study aims to determine the distribution of HBB S haplotypes and RH variants, and to investigate whether the haplotypes are associated with the RH variants in the Brazilian SCD population. Methods: Whole genome sequencing data from 2,626 patients with SCD from the NHLBI Recipient Epidemiology and Donor Evaluation Study (REDS)-III cohort were analyzed. Participants were recruited at four Brazilian blood centers between 2013 and 2018. Beta-globin haplotypes were classified using a phased SNP-based pipeline. RH variants were identified by detecting partial alleles in the RHD and RHCE genes using an automated erythrocyte genotyping tool (bloodTyper). Results: The most frequent HBB S haplotypes were Central African Republic (CAR) (57.2%) and Benin (BEN) (35.5%). RH variant alleles were identified in 22.6% (n = 594) of patients. Among these, 66.5% (n = 395) had variants only in RHCE, 22.1% (n = 131) only in RHD, and 11.4% (n = 68) in both genes. The most common RHD variants were DAR3 (23.9%) and DAR1 (20.7%), while the predominant RHCE variant was ceVS (80.0%). Differences in variant frequencies were observed among blood centers: Fundação Pró-Sangue had more DIIIc (33.3%), and Hemope had more diverse RHCE variants (ceAR = 7.2%; CeCW, Ce.22, and ceMO = 6.3% each). No significant association was found between RH variants and haplotypes; CAR and BEN were most frequently associated with RHD (57.6% and 35.3%, respectively) and RHCE variants (58.0% and 34.4%, respectively). Discussion: Although RH variants were frequent in this Brazilian SCD cohort, their distribution was not associated with HBB S haplotypes. The predominance of CAR and BEN haplotypes reflects the known ancestral composition of the Brazilian SCD population, while the differences in RH variant frequencies among transfusion centers may reflect the heterogeneous genetic background of the Brazilian population. Conclusion: CAR and BEN were the predominant HBB S haplotypes in this Brazilian SCD cohort, but no significant association was observed between HBB S haplotypes and RHD or RHCE variants. Substantial heterogeneity in the distribution of RH variants was observed across Brazilian transfusion centers.",
  "abstract_shown": true,
  "affiliations": [
    "Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil",
    "Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti (HEMORIO), Rio de Janeiro, Brazil",
    "Fundação Hemominas, Belo Horizonte, Brazil",
    "Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Recife",
    "Vitalant Research Institute, United States",
    "UCSF Benioff Children’s Hospital Oakland, United States",
    "Fundação Pró-Sangue, Hemocentro de São Paulo, São Paulo"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Monike Aparecida Matos DE OLIVEIRA"
    },
    {
      "affs": [
        1
      ],
      "name": "Shirley CASTILHO"
    },
    {
      "affs": [
        2
      ],
      "name": "Luciana CAYRES"
    },
    {
      "affs": [
        3
      ],
      "name": "Dahra TELES"
    },
    {
      "affs": [
        0
      ],
      "name": "Ester Cerdeira SABINO"
    },
    {
      "affs": [
        4
      ],
      "name": "Brian CUSTER"
    },
    {
      "affs": [
        5
      ],
      "name": "Shannon KELLY"
    },
    {
      "affs": [
        6
      ],
      "name": "Alfredo MENDRONE JÚNIOR"
    },
    {
      "affs": [
        6
      ],
      "name": "Vanderson ROCHA"
    },
    {
      "affs": [
        6
      ],
      "name": "Carla Luana DINARDO"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/f7h954a8efs7j.bib",
  "cited_by": 0,
  "doi": "10.1016/j.htct.2026.107265",
  "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S2531137926010126",
  "id": "f7h954a8efs7j",
  "issns": [
    "2531-1379",
    "2531-1387"
  ],
  "landing_url": "https://doi.org/10.1016/j.htct.2026.107265",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "RC633-647.5"
    ],
    [
      "openalex",
      "2720|Blood groups and transfusion"
    ]
  ],
  "openalex": "W7223116837",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-23",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/f7h954a8efs7j.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:43:18Z",
      "native_id": "4307594a3af749238cf237d523a3ab1b",
      "source": "doaj",
      "url": "https://doi.org/10.1016/j.htct.2026.107265"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "lcc:RC633-647.5",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "ASSOCIATION BETWEEN",
  "title_text": "ASSOCIATION BETWEEN",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:43:18Z",
  "url": "https://research.draconitic.com/paper/f7h954a8efs7j",
  "venue": "Hematology, Transfusion and Cell Therapy",
  "versions": []
}