Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

Carneiro-Proietti, Anna Bárbara F.; Kelly, Shannon; Teixeira, Carolina Miranda; Sabino, Éster Cerdeira; Alencar, Cecília Salete; Capuani, Ligia; Silva, Tassila P. Salomon; Araújo, Aderson da Silva; Loureiro, Paula; Maximo, Cláudia; Lobo, Clarisse Lopes de Castro; Flor-Park, Miriam V.; Rodrigues, Dow; Mota, Rosimere Afonso; Gonçalez, Thelma T.; Hoppe, Carolyn; Ferreira, João Eduardo; Ozahata, Mina Cintho; Page, Grier P.; Guo, Yuelong; Preiss, Liliana; Brambilla, Donald; Busch, Michael P.; Custer, Brian

doi:10.1111/bjh.15462

Cited by 44 publications

(52 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…While recruitment targeted high‐intensity donors and minority populations, including Asian, African American, and Hispanic donors, the US donor population most closely resembles this study population. Additionally, REDS‐III has also conducted a cohort study of 2798 patients with SCD from six hemocenters in Brazil who are being followed longitudinally . High‐quality DNA was obtained from both cohorts using white blood cells (WBCs) eluted from leukoreduced filters for the RBC‐Omics study and whole blood samples for the Brazil SCD cohort.…”

Section: Methodsmentioning

confidence: 99%

Development and evaluation of a transfusion medicine genome wide genotyping array

et al. 2018

Self Cite

View full text Add to dashboard Cite

BACKGROUND: Many aspects of transfusion medicine are affected by genetics. Current single-nucleotide polymorphism (SNP) arrays are limited in the number of targets that can be interrogated and cannot detect all variation of interest. We designed a transfusion medicine array (TM-Array) for study of both common and rare transfusion-relevant variations in genetically diverse donor and recipient populations.STUDY DESIGN AND METHODS: The array was designed by conducting extensive bioinformatics mining and consulting experts to identify genes and genetic variation related to a wide range of transfusion medicine clinical relevant and research-related topics. Copy number polymorphisms were added in the alpha globin, beta globin, and Rh gene clusters. RESULTS:The final array contains approximately 879,000 SNP and copy number polymorphism markers. Over 99% of SNPs were called reliably. Technical replication showed the array to be robust and reproducible, with an error rate less than 0.03%. The array also had a very low Mendelian error rate (average parent-child trio accuracy of 0.9997). Blood group results were in concordance with serology testing results, and the array accurately identifies rare variants (minor allele frequency of 0.5%). The array achieved high genome-wide imputation coverage for African-American (97.5%), Hispanic (96.1%), East Asian (94.6%), and white (96.1%) genomes at a minor allele frequency of 5%. CONCLUSIONS: A custom array for transfusionmedicine research has been designed and evaluated. It gives wide coverage and accurate identification of rare SNPs in diverse populations. The TM-Array will be useful for future genetic studies in the diverse fields of transfusion medicine research. T ransfusion medicine encompasses diverse medical services and fields of research including blood donation, component processing, immunohematology, infectious disease, recipient outcomes, ABBREVIATIONS: BGMUT = blood group antigen gene mutation; CNPs = copy number polymorphisms; GWASs = genome-wide association studies; MAF = minor allele frequency; NHLBI = National Heart, Lung, and Blood Institute; RBC-Omics = Red Blood Cell Omics; REDS-III = Recipient Epidemiology Donor Evaluation Study-III; SCD = sickle cell disease; SNP = single-nucleotide polymorphism

show abstract

Section: Methodsmentioning

confidence: 99%

Development and evaluation of a transfusion medicine genome wide genotyping array

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…The details of the Recipient Epidemiology and Evaluation Donor Study (REDS)‐III Brazilian SCD cohort have been previously reported . Patients were randomly selected to be eligible for the REDS‐III cohort from the active SCD patient population (clinical visit within the past 3 years) at four transfusion centers in six cities in Brazil: HEMOPE (Recife); Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Instituto da Criança (São Paulo); HEMORIO (Rio de Janeiro); and HEMOMINAS (Belo Horizonte, Juiz de Fora, and Montes Claros).…”

Section: Methodsmentioning

confidence: 99%

Diversity of RH and transfusion support in Brazilian sickle cell disease patients with unexplained Rh antibodies

et al. 2019

Self Cite

View full text Add to dashboard Cite

BACKGROUND: Genetic diversity in the RH genes among sickle cell disease (SCD) patients is well described but not yet extensively explored in populations of racially diverse origin. Transfusion support is complicated in patients who develop unexpected Rh antibodies. Our goal was to describe RH variation in a large cohort of Brazilian SCD patients exhibiting unexpected Rh antibodies (antibodies against RH antigens to which the patient is phenotypically positive) and to evaluate the impact of using the patient's RH genotype to guide transfusion support. STUDY DESIGN AND METHODS: Patients within theRecipient Epidemiology and Evaluation Donor Study (REDS)-III Brazil SCD cohort with unexpected Rh antibodies were selected for study. RHD and RHCE exons and flanking introns were sequenced by targeted next-generation sequencing.

show abstract

“…Clinical and genetic ancestry profile of a large multicenter SCD cohort in Brazil. A description of patient recruitment and study procedures, and baseline data collected during enrollment visits (2013-2015) (Carneiro-Proietti et al, 2018). The article also reports the sequencing of single nucleotide polymorphisms (SNPs) covering the entire genome.…”

Section: Brazilmentioning

confidence: 99%

The Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications

Nembaware

Mazandu

Hotchkiss

et al. 2020

OMICS: A Journal of Integrative Biology

Self Cite

View full text Add to dashboard Cite

Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, with an increasing trend. The sickle cell disease ontology (SCDO) is the most comprehensive multidisciplinary SCD knowledge portal. The SCDO was collaboratively developed by the SCDO working group, which includes experts in SCD and data standards from across the globe. This expert review presents highlights and lessons learned from the fourth SCDO workshop that marked the beginning of applications toward planetary health impact, and with an eye to empower and cultivate multisite SCD collaborative research. The workshop was organized by the Sickle Africa Data Coordinating Center (SADaCC) and attended by 44 participants from 14 countries, with 2 participants connecting remotely. Notably, from the standpoint of democratizing and innovating scientific meeting design, an SCD patient advocate also presented at the workshop, giving a broader real-life perspective on patients' aspirations, needs,

show abstract

Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil

Cited by 44 publications

References 22 publications

Development and evaluation of a transfusion medicine genome wide genotyping array

Development and evaluation of a transfusion medicine genome wide genotyping array

Diversity of RH and transfusion support in Brazilian sickle cell disease patients with unexplained Rh antibodies

The Sickle Cell Disease Ontology: Enabling Collaborative Research and Co-Designing of New Planetary Health Applications

Contact Info

Product

Resources

About