PMID- 38024588
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231201
IS  - 2688-6146 (Electronic)
IS  - 2688-6146 (Linking)
VI  - 4
IP  - 4
DP  - 2023 Nov
TI  - HLA haplotype frequencies and diversity in patients with hemoglobinopathies.
PG  - 963-969
LID - 10.1002/jha2.763 [doi]
AB  - The genetic diversity of the human leukocyte antigen (HLA) system was shaped by 
      evolutionary constraints exerted by environmental factors. Analyzing HLA 
      diversity may allow understanding of the underlying pathways and offer useful 
      tools in transplant setting. The aim of this study was to investigate the HLA 
      haplotype diversity in patients with sickle cell disease (SCD, N = 282) or 
      beta-thalassemia (beta-Thal, N = 60), who received hematopoietic cell transplantation 
      (HCT) reported to Eurocord and the Societe Francophone de Greffe de Moelle et de 
      Therapie Cellulaire (SFGM-TC). We identified 405 different HLA-A-B-DRB1 
      haplotypes in SCD and 108 in beta-Thal patients. Using data from African and 
      European populations of the "1000 Genomes Project" for comparison with SCD and 
      beta-Thal, respectively, we found that the haplotypes HLA-A*30-B*14-DRB1*15 (OR 
      7.87, 95% CI: 1.66-37.3, p (b) = 0.035), HLA-A*23-B*08 (OR 6.59, 95% CI: 
      1.8-24.13, p (b) = 0.023), and HLA-B*14-DRB1*15 (OR 10.74, 95% CI: 3.66-31.57, p 
      (b) = 0.000) were associated with SCD, and the partial haplotypes HLA-A*30-B*13 
      and HLA-A*68-B*53 were associated with beta-Thal (OR 4.810, 95% CI: 1.55-14.91, p 
      (b) = 0.033, and OR 17.52, 95% CI: 2.81-184.95, p (b) = 0.011). Our results 
      confirm the extreme HLA genetic diversity in SCD patients likely due to their 
      African ancestry. This diversity seems less accentuated in patients with beta-Thal. 
      Our findings emphasize the need to expand inclusion of donors of African descent 
      in HCT donor registries and cord blood banks.
CI  - (c) 2023 The Authors. eJHaem published by British Society for Haematology and John 
      Wiley & Sons Ltd.
FAU - Scigliuolo, Graziana M
AU  - Scigliuolo GM
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Monacord, Centre Scientifique de Monaco Monaco Monaco.
FAU - Boukouaci, Wahid
AU  - Boukouaci W
AD  - Laboratoire Neuro-Psychiatrie Translationnelle INSERM U955, IMRB, et APHP Hopital 
      Henri Mondor Creteil France.
FAU - Cappelli, Barbara
AU  - Cappelli B
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Monacord, Centre Scientifique de Monaco Monaco Monaco.
FAU - Volt, Fernanda
AU  - Volt F
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
FAU - Rivera Franco, Monica M
AU  - Rivera Franco MM
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
FAU - Dhedin, Nathalie
AU  - Dhedin N
AD  - Service d'hematologie Adolescents Jeunes Adultes Hopital Saint Louis APHP Paris 
      France.
FAU - de Latour, Regis Peffault
AU  - de Latour RP
AD  - Service d'Hematologie-Greffe Hopital Saint-Louis, APHP Universite de Paris-Cite 
      Paris France.
FAU - Devalck, Christine
AU  - Devalck C
AD  - HUDERF(Hopital Universitaire des Enfants Reine Fabiola) Department of 
      Hemato-Oncology Universite Libre de Bruxelles Bruxelles Belgium.
FAU - Dalle, Jean-Hugues
AU  - Dalle JH
AD  - Hopital Robert Debre GH-APHP - Nord Universite de Paris Paris France.
FAU - Castelle, Martin
AU  - Castelle M
AD  - AP-HP Hopital Necker-Enfants-Malades Paris France.
FAU - Hermine, Olivier
AU  - Hermine O
AD  - AP-HP, Department of Adult Hematology Hopital Necker University of Paris Paris 
      France.
FAU - Chardin, Marie Ouachee
AU  - Chardin MO
AD  - Institute of Pediatric Hematology and Oncology (IHOPe) Lyon France.
FAU - Poire, Xavier
AU  - Poire X
AD  - Service d'hematologie, Cliniques Universitaires St-Luc Universite Catholique de 
      Louvain Brussels Belgium.
FAU - Brichard, Benedicte
AU  - Brichard B
AD  - Department of Paediatric Haematology and Oncology Cliniques Universitaires Saint 
      Luc Brussels Belgium.
FAU - Paillard, Catherine
AU  - Paillard C
AD  - Department of Pediatric Hemato-oncology and Bone Marrow Transplantation Unit 
      Hopital de Hautepierre Strasbourg France.
FAU - Rafii, Hanadi
AU  - Rafii H
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
FAU - Kenzey, Chantal
AU  - Kenzey C
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
FAU - Wu, Ching-Lien
AU  - Wu CL
AD  - Laboratoire Neuro-Psychiatrie Translationnelle INSERM U955, IMRB, et APHP Hopital 
      Henri Mondor Creteil France.
FAU - Bouassida, Jihene
AU  - Bouassida J
AD  - Laboratoire Neuro-Psychiatrie Translationnelle INSERM U955, IMRB, et APHP Hopital 
      Henri Mondor Creteil France.
FAU - Robin, Marie
AU  - Robin M
AD  - Service d'Hematologie-Greffe Hopital Saint-Louis, APHP Universite de Paris-Cite 
      Paris France.
AD  - La Societe Francophone de Greffe de Moelle et de Therapie Cellulaire Lyon France.
FAU - Raus, Nicole
AU  - Raus N
AD  - La Societe Francophone de Greffe de Moelle et de Therapie Cellulaire Lyon France.
FAU - Rocha, Vanderson
AU  - Rocha V
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Faculty of Medicine Hospital das Clinicas Sao Paulo University Sao Paulo Brazil.
FAU - Ruggeri, Annalisa
AU  - Ruggeri A
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Hematology and Bone Marrow Transplant Unit IRCCS San Raffaele Scientific 
      Institute Milan Italy.
FAU - Gluckman, Eliane
AU  - Gluckman E
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Monacord, Centre Scientifique de Monaco Monaco Monaco.
FAU - Tamouza, Ryad
AU  - Tamouza R
AD  - Eurocord, Hopital Saint-Louis APHP Institut de Recherche de Saint-Louis (IRSL) 
      EA3518 Universite de Paris Cite Paris France.
AD  - Laboratoire Neuro-Psychiatrie Translationnelle INSERM U955, IMRB, et APHP Hopital 
      Henri Mondor Creteil France.
CN  - Eurocord and Societe Francophone de Greffe de Moelle et de Therapie Cellulaire 
      (SFGM-TC)
LA  - eng
PT  - Journal Article
DEP - 20230804
PL  - United States
TA  - EJHaem
JT  - EJHaem
JID - 101761942
PMC - PMC10660433
OTO - NOTNLM
OT  - HLA
OT  - haplotypes
OT  - hemoglobinopathies
OT  - sickle cell disease
OT  - beta-thalassemia
COIS- The authors declare they have no conflicts of interest.
EDAT- 2023/11/29 18:42
MHDA- 2023/11/29 18:43
PMCR- 2023/08/04
CRDT- 2023/11/29 16:13
PHST- 2023/05/03 00:00 [received]
PHST- 2023/07/10 00:00 [revised]
PHST- 2023/07/26 00:00 [accepted]
PHST- 2023/11/29 18:43 [medline]
PHST- 2023/11/29 18:42 [pubmed]
PHST- 2023/11/29 16:13 [entrez]
PHST- 2023/08/04 00:00 [pmc-release]
AID - JHA2763 [pii]
AID - 10.1002/jha2.763 [doi]
PST - epublish
SO  - EJHaem. 2023 Aug 4;4(4):963-969. doi: 10.1002/jha2.763. eCollection 2023 Nov.