, Volume 70, Issue 8, pp 511–522 | Cite as

The distribution of HLA haplotypes in the ethnic groups that make up the Brazilian Bone Marrow Volunteer Donor Registry (REDOME)

  • Michael Halagan
  • Danielli Cristina Oliveira
  • Martin Maiers
  • Raquel A. Fabreti-Oliveira
  • Maria Elisa Hue Moraes
  • Jeane Eliete Laguila Visentainer
  • Noemi Farah Pereira
  • Matilde Romero
  • Juliana Fernandes Cardoso
  • Luís Cristóvão PortoEmail author
Original Article


The Registries of Bone Marrow Donors around the world include more than 30 million volunteer donors from 57 different countries, and were responsible for over 17,000 hematopoietic stem cell transplants in 2016. The Brazilian Bone Marrow Volunteer Donor Registry (REDOME) was established in 1993 and is the third largest registry in the world with more than 4.3 million donors. We characterized HLA allele and haplotypes frequencies from REDOME comparing them with the donor self-reported race group classification. Five-locus haplotype frequencies (A~C~B~DRB1~DQB1) were estimated for each of the six race groups, resolving phase and allelic ambiguity using the expectation–maximization (EM) algorithm. The top 100 haplotypes in the race groups were separated into eight clusters of haplotypes, based on haplotype similarity, using CLUTO. We present HLA allele and haplotype frequency data from six race groups from 2,938,259 individuals from REDOME. The most frequent haplotype was the same for all groups: A*01:01g~C*07:01g~B*08:01g~DRB1*03:01g~DQB1*02:01g. Some frequent haplotypes such as A*02:01g~C*16:01g~B*44:03~DRB1*07:01g~DQB1*02:01g was not found in people with Preta (Sub-Saharan African descent). A cluster including Branca (European) and Parda or non-informed (admixed) could be distinguished from both Preta (SubSaharan) and Indígena (Amerindian) groups, and from the Amarela (Asian) ones, which clustered with their original population. These results have implications on cross-population matching and can help in donor searches and population-based recruitment strategies.


HLA Haplotypes Ethnic group Brazil 



We thank Michael Wright for the critical revision and language edition of the manuscript.

Funding information

This work is partly supported by a grant from Brazil Health Ministry – Transplant National System (proc. 25000.210075/2012-70). LCP was awarded as Short Period NMDP Visiting Scientist (Brazil National Research Council CNPq – proc. 453199/2015-1).

Supplementary material

251_2018_1059_MOESM1_ESM.xlsx (97 kb)
Supplementary Table S1 Top 100 HLA Allele Frequency per race in REDOME. CWD_2; - Common and well documented alleles version 2, C- common, WD well documented; race self-declared – IBGE classification): AMARELA (Asian descent); BRANCA (European descent); INDIGENA (Amerindian); NAO INFORMADO (Non informed); PARDA (Admixed); PRETA (Sub-Saharan African descent); HLA alleles in populations (Solberg et al. 2008): 0 - non reported, 1 - reported: AUS – Australia; CAS -; EUR - Europe; NAF – north Africa; NAM - North America; NEA - northeast Asia; OCE - Oceania; SAM - South America; SAS -; SEA - southeast Asia; SSA - sub-Saharan Africa; WAS -; sum – Number of Populations where the allele has been reported. (XLSX 96 kb)
251_2018_1059_MOESM2_ESM.xlsx (13 kb)
Supplementary Table S2 Hardy Weinberg test results of the five HLA loci. (XLSX 12 kb)
251_2018_1059_MOESM3_ESM.xlsx (21 kb)
Supplementary Table S3 Top 100 HLA haplotypes Frequency per race in REDOME. Race self-declared – IBGE classification: AMARELA (Asian descent); BRANCA (European descent); INDIGENA (Amerindian); NAO INFORMADO (Non informed); PARDA (Admixed); PRETA (SubSaharan African descent) (XLSX 20 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Michael Halagan
    • 1
  • Danielli Cristina Oliveira
    • 2
  • Martin Maiers
    • 1
  • Raquel A. Fabreti-Oliveira
    • 3
    • 4
  • Maria Elisa Hue Moraes
    • 5
  • Jeane Eliete Laguila Visentainer
    • 6
  • Noemi Farah Pereira
    • 7
  • Matilde Romero
    • 8
  • Juliana Fernandes Cardoso
    • 2
    • 9
  • Luís Cristóvão Porto
    • 9
    • 10
    Email author
  1. 1.Bioinformatics ResearchNational Marrow Donor ProgramMinneapolisUSA
  2. 2.Brazilian Bone Marrow Registry (REDOME), Instituto Nacional do Câncer, Ministério da SaúdeRio de JaneiroBrazil
  3. 3.Faculty of Medical SciencesBelo HorizonteBrazil
  4. 4.IMUNOLAB–Histocompatibility LaboratoryBelo HorizonteBrazil
  5. 5.JRM-Investigações ImunológicasRio de JaneiroBrazil
  6. 6.Laboratório de ImunogenéticaUniversidade Estadual de MaringáMaringáBrazil
  7. 7.Laboratório de Imunogenética, Hospital de ClínicasUniversidade Federal do ParanáCuritibaBrazil
  8. 8.Immunogenetics LaboratoryInstituto Nacional do Câncer, Ministério da SaúdeRio de JaneiroBrazil
  9. 9.Histocompatibility and Cryopreservation LaboratoryRio de Janeiro State UniversityRio de JaneiroBrazil
  10. 10.Laboratório de Histocompatibilidade e CriopreservaçãoUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil

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