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Sickle cell anemia in the state of Maranhão: a haplotype study

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Abstract

Sickle cell anemia (SCA) is the most severe form of sickle cell disease caused by homozygosity of the βS-gene (S/S or βSβS) and has worldwide distribution. Six polymorphic sites in the β-globin gene cluster were analyzed from a sample of 56 chromosomes of patients with SCA from the state of Maranhão, northeastern Brazil. PCR-RFLP showed that the CAR haplotype was predominant with a frequency of 64.28%, followed by the BEN haplotype (28.57%). Atypical haplotypes were identified at a frequency of 7.15%. Genotypes CAR/CAR, BEN/BEN, and CAR/BEN were present in 46.43%, 10.71%, and 35.71% of patients, respectively. β-Globin haplotype determination is important not only for the monitoring and prognosis of patients with SCA, but it also serves to inform anthropological studies that contribute to elucidating any peculiarities associated with African influences that contributed to the ethnological, economic, cultural, and social formation of Brazil. The high frequency of the CAR/CAR and CAR/BEN haplotypes in this study, which are associated with low levels of fetal hemoglobin, may ultimately reflect a severe clinical course and poor prognosis in patients with SCA in Maranhão.

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Acknowledgments

The authors thank all the people who contributed directly to the success of this study. Thank you Luís Magno Viana dos Santos by map designed, mainly the patients with sickle cell anemia in Maranhão State, and those who were responsible for patients of this study.

Funding

This work had the financial support of Laboratory of Clinical Research structure of Clinical Research Center (CEPEC) of the University Hospital of UFMA, Federal University of Maranhão, Financier of Studies and Projects of the Ministry of Science and Technology (FINEP), Maranhão State Foundation for Research and Scientific and Technological Development (FAPEMA), and HEMOMAR (Maranhão Blood Center).

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Authors and Affiliations

  1. Laboratory of Hematology, Department of Pharmacy, Federal University of Maranhão, Av. dos Portugueses, 1966, São Luís, MA, 65.080-805, Brazil

    Ademilton Costa Alves, Verônica Avena Lisboa da Silva, Alexandro Dos Santos, Felipe Albuquerque Marques & Raimundo Antônio Gomes de Oliveira

  2. Department of Clinical Medicine, Medical School, Emergency Medicine Laboratory (LIM-51), University of São Paulo, Av. Dr. Arnaldo, 455, São Paulo, SP, 01246-903, Brazil

    Mariana Barreto Serra & Wermerson Assunção Barroso

  3. Department of Medicine, Federal University of Maranhão, Av. dos Portugueses, 1966, São Luís, MA, 65.080-805, Brazil

    Sônia Maria Pereira Cruz

  4. Laboratory of Clinical Research of CEPEC – HUUFMA, Federal University of Maranhão, Rua Almirante Tamandaré, N° 01, São Luís, MA, CEP: 65020-600, Brazil

    Raimundo Antônio Gomes de Oliveira

Authors
  1. Ademilton Costa Alves
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  2. Verônica Avena Lisboa da Silva
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  3. Alexandro Dos Santos
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  4. Mariana Barreto Serra
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  5. Felipe Albuquerque Marques
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  6. Sônia Maria Pereira Cruz
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  7. Wermerson Assunção Barroso
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  8. Raimundo Antônio Gomes de Oliveira
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Corresponding author

Correspondence to Mariana Barreto Serra.

Ethics declarations

This study was approved by the Research Ethics Committee of the University Hospital of the Federal University of Maranhão (HUUFMA), under number 111/2008. All patients and/or their caregivers signed a free and informed consent form; data collection was performed only after this form was signed.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical aproval

All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. This study was approved by the Research Ethics Committee of the University Hospital of the Federal University of Maranhão (HUUFMA), under number 111/2008. All patients and/or their caregivers signed a free and informed consent form; data collection was performed only after this form was signed.

Additional information

This note can be taken from the paper of A.C. ALVES and V. A. L. SILVA under my master’s orientation (R. A. GOMES OLIVEIRA) of Programa de Pós-Graduação em Ciências da Saúde da Universidade Federal do Maranhão.

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Alves, A.C., da Silva, V.A.L., Dos Santos, A. et al. Sickle cell anemia in the state of Maranhão: a haplotype study. Ann Hematol 99, 1225–1230 (2020). https://doi.org/10.1007/s00277-020-04048-9

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  • DOI: https://doi.org/10.1007/s00277-020-04048-9

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