The frequency of β-globin gene haplotypes, α-thalassemia and genetic polymorphisms of methylenetetrahydrofolate reductase, factor V Leiden and prothrombin genes in children with sickle cell disease in Rio de Janeiro, Brazil

Filho, Isaac L. Silva; Ribeiro, Georgina Severo; Pimenta-Bueno, Leíse M.; Serpa, Maria José A.

doi:10.1590/s1516-84842010000100017

Cited by 6 publications

(3 citation statements)

References 6 publications

(11 reference statements)

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“…The high prevalence rates of the CAR (56.6%) and Benin (33.6%) haplotypes in Minas Gerais were similar to those observed in a previous study, and agrees with historical records that describe these African regions as the origin of the slave trade from Africa to Brazil. The slaves that arrived in Minas Gerais had diverse African origins; those coming from Rio de Janeiro were mainly from Angola and Congo, where the CAR (Bantu) haplotype predominates, and those coming from Bahia were mainly from the Bay of Benin, where the Benin haplotype is most common 42‐44 …”

Section: Discussionmentioning

confidence: 99%

“…The slaves that arrived in Minas Gerais had diverse African origins; those coming from Rio de Janeiro were mainly from Angola and Congo, where the CAR (Bantu) haplotype predominates, and those coming from Bahia were mainly from the Bay of Benin, where the Benin haplotype is most common. [42][43][44] HSCT is the only curative treatment for SCD and was incorporated in the Brazilian National Health System (SUS) since 2015 (allogenic HSCT with related donor), but it is limited by donor availability. The possibility of using alternative stem-cell sources could increases the chance of finding a compatible donor.…”

Section: Discussionmentioning

confidence: 99%

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Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease

Silva-Malta

Rodrigues

Zuccherato

et al. 2017

HLA

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Hematopoietic stem-cell transplantation (HSCT) is currently the only established curative treatment for sickle cell disease (SCD), but is limited by donor availability. Ethnicity is thought to have an impact on the complications experienced by patients that undergo HSCT and on the likelihood of identifying an human leukocyte antigen (HLA) matched donor. In the present study, we investigated the genomic ancestry and the distribution of HLA allele groups in Brazilian patients with SCD, compared these HLA profiles to worldwide populations and evaluate the availability of HLA-matched donors. A broad intercontinental admixture of patients with SCD was observed, with African ancestry ranging from 6.7% to 93.4%. In a dendrogram based on HLA frequencies, Brazilian patients with SCD were included in a branch containing only populations with a significant African component. Among the 126 patients evaluated, 10 (8%) found a HLA-matched unrelated donor in a database of 18 134 donors. Self-reported white, brown and black matched donors were identified, and no significant difference in the percentage of compatible donors was observed between these ethnic groups. Our results show that Brazilian patients with SCD are very admixed, indicating that this group is a promising target for admixture mapping of genes involved in complications after HSCT. Additional studies may help to clarify the impact of the genetic diversity and admixture of these patients on the donor availability.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease

Silva-Malta

Rodrigues

Zuccherato

et al. 2017

HLA

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“…It predominantly affects the Black population and presents clinical manifestations within the first years of life with repercussions on morbidity and mortality 1, 2. Despite technological and scientific advances to improve the prognosis of sickle cell disease, its management persists as a challenge for professional healthcare providers, since it involves complex aspects of diagnosis, treatment and prevention of complications 3, 4, 5…”

Section: Introductionmentioning

confidence: 99%

Knowledge of professional healthcare providers about sickle cell disease: Impact of a distance education course

Diniz

Pagano

Fernandes

et al. 2019

Hematology, Transfusion and Cell Therapy

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ObjectiveTo assess the impact of the distance education course “Sickle Cell Disease: Primary Health Care Line” on knowledge acquisition of professional healthcare providers.MethodsA cross-sectional study was conducted with a quantitative approach at the Educational and Support Center for Hemoglobinopathies (Cehmob-MG), state of Minas Gerais, Brazil, in 2016. One hundred and fifty-three out of 300 professional healthcare providers were invited to participate in the proposed distance course. Of the participating professional healthcare providers, 72 (47%) successfully concluded the course (Group A), whereas 81 (53%) did not complete their course assignments and did not meet the minimum requirements for regular attendance (Group B). Knowledge acquisition was assessed with the Knowledge of Sickle Cell Disease Instrument, DFConhecimento, applied using the web tool eSurv. Univariate analysis by Poisson regression was employed to assess the influence of sociodemographic variables on the DFConhecimento score and to select variables to compose the initial multivariate regression model (p-value < 0.20). The analysis was performed in the statistical programming environment R.ResultsThe average score was 9.76 for Group A and 6.54 for Group B. The two groups were considered statistically different (p-value < 0.05) for all items with the proportion of correct items being greater in Group A. Professional healthcare providers who concluded the course had a significantly higher DFConhecimento score (45%) when compared to those who did not successfully conclude the course.ConclusionParticipation in a distance education course on sickle cell disease had a positive impact on the acquisition of knowledge about the disease by professional healthcare providers.

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Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort

et al. 2021

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The frequency of β-globin gene haplotypes, α-thalassemia and genetic polymorphisms of methylenetetrahydrofolate reductase, factor V Leiden and prothrombin genes in children with sickle cell disease in Rio de Janeiro, Brazil

Cited by 6 publications

References 6 publications

Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease

Human leukocyte antigen distribution and genomic ancestry in Brazilian patients with sickle cell disease

Knowledge of professional healthcare providers about sickle cell disease: Impact of a distance education course

Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort

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