HLA-Matched Unrelated Donors for Patients with Sickle Cell Disease: Results of International Donor Searches

Tozatto-Maio, Karina; Torres, Margareth; Degaide, Neifi Hassan Saloum; Cardoso, Juliana Fernandes; Volt, Fernanda; Pinto, Ana Cristina Silva; Oliveira, Danielli C. M.; Elayoubi, Hanadi; Kashima, Simone; Loiseau, Pascale; Veelken, Hendrik; Ferster, Alina; Cappelli, Barbara; Rodrigues, Evandra Strazza; Scigliuolo, Graziana Maria; Kenzey, Chantal; Ruggeri, Annalisa; Rocha, Vanderson; Simões, Belinda Pinto; Tamouza, Ryad; Gluckman, Éliane

doi:10.1016/j.bbmt.2020.07.015

Cited by 5 publications

(5 citation statements)

References 31 publications

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“…Among them, eight were frequent, as previously reported in Afro‐American populations, in particular the A*30‐B*42‐DRB1*03 and the A*36‐B*53‐DRB1*11 haplotypes [25]. The latter has been previously described in both Brazilian and European SCD patients [19]. Similarly, the most frequent two‐locus HLA‐A‐B partial haplotypes in SCD patients have already been described, even if with different frequencies, in Black individuals [26].…”

Section: Discussionsupporting

confidence: 61%

“…haplotypes [25]. The latter has been previously described in both Brazilian and European SCD patients [19]. Similarly, the most frequent two-locus HLA-A-B partial haplotypes in SCD patients have already been described, even if with different frequencies, in Black individuals [26].…”

Section: Hla-a-b Partial Haplotype N H Frequencymentioning

confidence: 55%

“…This diversity hinders finding HLA-matched unrelated donors for African patients in need of an allogeneic transplant. Even now, there is a paucity of studies that evaluated the distribution of HLA haplotypes in hemoglobinopathies [18,19], and there is a total lack of information concerning the potential implications of HLA haplotypes in the risk of having the disorders, as well as their contribution in the clinical expression of the diseases.…”

Section: Hla-a-b Partial Haplotype N H Frequencymentioning

confidence: 99%

“…Several studies have reported the frequencies of the most frequent HLA haplotypes in France [11,12] and Europe, mainly from bone marrow donor registry HLA data [13][14][15], but the haplotype diversity of ethnic minorities has rarely been studied [16,17]. To date, few studies explored HLA genotype and haplotype information in patients with hemoglobinopathies explaining difficulties to find potential unrelated donors in international registries [18,19].…”

Section: Introductionmentioning

confidence: 99%

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HLA haplotype frequencies and diversity in patients with hemoglobinopathies

Scigliuolo

Boukouaci

Cappelli

et al. 2023

eJHaem

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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 β‐thalassemia (β‐Thal, N = 60), who received hematopoietic cell transplantation (HCT) reported to Eurocord and the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire (SFGM‐TC). We identified 405 different HLA‐A‐B‐DRB1 haplotypes in SCD and 108 in β‐Thal patients. Using data from African and European populations of the “1000 Genomes Project” for comparison with SCD and β‐Thal, respectively, we found that the haplotypes HLA‐A*30‐B*14‐DRB1*15 (OR 7.87, 95% CI: 1.66–37.3, pb = 0.035), HLA‐A*23‐B*08 (OR 6.59, 95% CI: 1.8–24.13, pb = 0.023), and HLA‐B*14‐DRB1*15 (OR 10.74, 95% CI: 3.66–31.57, pb = 0.000) were associated with SCD, and the partial haplotypes HLA‐A*30‐B*13 and HLA‐A*68‐B*53 were associated with β‐Thal (OR 4.810, 95% CI: 1.55–14.91, pb = 0.033, and OR 17.52, 95% CI: 2.81–184.95, pb = 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 β‐Thal. Our findings emphasize the need to expand inclusion of donors of African descent in HCT donor registries and cord blood banks.

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Section: Discussionsupporting

confidence: 61%

Section: Hla-a-b Partial Haplotype N H Frequencymentioning

confidence: 55%

Section: Hla-a-b Partial Haplotype N H Frequencymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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HLA haplotype frequencies and diversity in patients with hemoglobinopathies

Scigliuolo

Boukouaci

Cappelli

et al. 2023

eJHaem

Self Cite

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“…In 2020, researchers demonstrated that <50% of patients requiring allogeneic HSCT had access to a suitably matched donor. [ 45 ] Gene therapy using autologous HSCs, in which the patient own mutant HSCs are genetically modified, could avoid these limitations and has gained increasing momentum. [ 46 ] Initially, Gene therapy started from the simple idea that replacing a disease-causing gene with healthy genes in HSC can cure the disease.…”

Section: Discussionmentioning

confidence: 99%

The research on the treatment of primary immunodeficiency diseases by hematopoietic stem cell transplantation: A bibliometric analysis from 2013 to 2022

Xu²,

et al. 2023

Medicine

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Hematopoietic stem cell transplantation (HSCT) is curative in patients with primary immunodeficiency syndrome. The safety and efficacy of HSCT as a therapeutic option for primary immunodeficiency diseases (PID) have been studied by many research groups. The purpose of our study was to perform a bibliometric analysis of research on HSCT for the treatment of PID, to assess research trends in this field, and note future research priorities. The Web of Science Core Collection (WOSCC) was used to identify relevant publications. VOSviewer and CiteSpace software were used to analyze bibliometric parameters, such as yearly records, authors, grouped authors, countries, institutions, categories and keywords. There are 602 relevant records for the last decade (2013–2022). The top 5 productive authors and high-quality paper journals are listed. Reference co-citations analysis demonstrated recent research trends were “inborn errors of immunity,” “gene editing,” and “enteropathy.” Research on HSCT for the treatment of PID has increased rapidly in the last decade, and bibliometrics are valuable for researchers to obtain an overview of hot categories, academic collaborations and trends in this study field.

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Chances of Finding Matched Unrelated Donors for Saudi Patients in Need of Hematopoietic Stem Cell Transplantation

Jawdat

Almutairi

et al. 2021

Transplantation and Cellular Therapy

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HLA-Matched Unrelated Donors for Patients with Sickle Cell Disease: Results of International Donor Searches

Cited by 5 publications

References 31 publications

HLA haplotype frequencies and diversity in patients with hemoglobinopathies

HLA haplotype frequencies and diversity in patients with hemoglobinopathies

The research on the treatment of primary immunodeficiency diseases by hematopoietic stem cell transplantation: A bibliometric analysis from 2013 to 2022

Chances of Finding Matched Unrelated Donors for Saudi Patients in Need of Hematopoietic Stem Cell Transplantation

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