Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea

Bernaudin, Françoise; Kamdem, Annie; Hau, Isabelle; Lelong, F.; Epaud, Ralph; Pondarré, Corinne; Pissard, Serge

doi:10.1182/bloodadvances.2017014555

Cited by 28 publications

(32 citation statements)

References 62 publications

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“…Furthermore, demographics of SCA population are specific in comparison with cancer. Although there are no data available on the demography in France because of the legislation, it is well‐known that most of the people with SCA originate from Western Africa or Western India . This involves cultural and religious issues as previously stated.…”

Section: Discussionmentioning

confidence: 99%

“…34 Those characteristics could influence the relationship of parents to their child, including during HSCT. 35 36 This involves cultural and religious issues as previously stated. In the end, we can assume that those specific aspects of SCA influence the way parents experience their child's transplantation compared to cancer, but the design of our study did not allow us to highlight that aspect.…”

Section: Discussionmentioning

confidence: 99%

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Hematopoietic stem cell transplantation in children with sickle cell anemia: The parents’ experience

Cavadini

Drain

Bernaudin

et al. 2019

Pediatric Transplantation

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Genoidentical HSCT is currently the only curative treatment for SCA, preventing further vascular complications in high‐risk children. Studies on the psychological implications of HSCT for recipient, sibling donor, and the rest of the family have been limited in SCA. This study enrolled ten families and used semi‐structured interviews to explore the parents' experience at three time points: first before transplantation, then 3 months later, and 1 year later. Three themes emerged from the results: (a) the presence of anxiety, experienced throughout the process, and alleviated by coping strategies (positive thinking, family support, praying); (b) the ability to remain parents to recipient and other family members, despite apprehension and feelings of helplessness, reinforced by the mobilization of important resources at the individual/family levels; (c) the ability to acknowledge the opportunity for their child to be cured of the disease, despite feelings of guilt toward families without a donor, or their own families back home. Overall, the parental experience with HSCT is complex, involving intra‐psychic, familial, cultural, religious, and existential factors. Thus, it is important for medical teams to be cognizant of these issues in order to provide the best support to families during the HSCT process.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hematopoietic stem cell transplantation in children with sickle cell anemia: The parents’ experience

Cavadini

Drain

Bernaudin

et al. 2019

Pediatric Transplantation

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“…Patients with G6PD deficiency had a lower HbF level than those without. However, the sex ratio was clearly unbalanced in this group (20 males and seven females) and it is well known that females usually exhibit higher HbF levels than males . The other biological parameters were not affected by the alpha‐globin and G6PD genotypes, as well as the age of diagnosis and the number of hospitalized VOC within the last 2 years.…”

Section: Resultsmentioning

confidence: 74%

Combined and differential effects of alpha‐thalassemia and HbF‐quantitative trait loci in Senegalese hydroxyurea‐free children with sickle cell anemia

Tall

Martin

Ndour

et al. 2019

Pediatric Blood & Cancer

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Background:Our objective was to investigate the combined and differential effects of alphathalassemia -3.7 kb deletion and HbF-promoting quantitative trait loci (HbF-QTL) in Senegalese hydroxyurea (HU)-free children and young adults with sickle cell anemia (SCA).Procedure: Steady-state biological parameters and vaso-occlusive crises (VOC) requiring emergency admission were recorded over a 2-year period in 301 children with SCA. The age of the first hospitalized VOC was also recorded. These data were correlated with the alpha-globin and HbF-QTL genotypes. For the latter, three different genetic loci were studied (XmnI, rs7482144;BCL11A, rs1427407; and the HBS1L-MYB region, rs28384513) and a composite score was calculated, ranging from zero (none of these three polymorphisms) to six (all three polymorphisms at the homozygous state).Results: : A positive clinical impact of the HbF-QTL score on VOC rate, HbF, leucocytes, and Creactive protein levels was observed only for patients without alpha-thalassemia deletion. Conversely, combination of homozygous -3.7 kb deletion with three to six HbF-QTL was associated with a higher VOC rate. The age of the first hospitalized VOC was delayed for patients with one or two alpha-thalassemia deletions and at least two HbF-QTL.Conclusion: Alpha-thalassemia -3.7 kb deletion and HbF-QTL are modulating factors of SCA clinical severity that interact with each other. They should be studied and interpreted together and not separately, at least in HU-free children.

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“…Other genetic polymorphisms with an established influence on the SCD phenotype have been identified, including, HbF modifiers (XmnI, BCL11A, and HBS1L-MYB polymorphisms), uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) promoter polymorphisms, and Glucose-6phosphate dehydrogenase (G6PD) deficiency [12,13,14]. standard biological assessment).…”

Section: Introductionmentioning

confidence: 99%

High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.

Elenga

CHAMOUINE²,

SAANDI³

et al. 2020

Preprint

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Background: Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia, specific to each population, would be prognostically useful and could inform personalized therapeutics. The objective of this study was to describe the genetic modulators of sickle cell disease in a cohort of pediatric patients followed up in Mayotte. Methods: In this retrospective cohort study, clinical and biological data, collected between 1 January 2007 and 31 December 2017, in children younger than 18 years, were considered for the analysis. Results: We included 185 children with 72 % SS, 16 % Sβ0-thalassemia and 12 % Sβ+ thalassemia. The mean age was 9.5 years; 10 % of patients were lost to follow up. The Bantu haplotype was associated with an increase in hospitalizations and transfusions. The alpha-thalassemic mutation was associated with a decrease of hemolysis biological parameters (anemia, reticulocytes), and less cerebral vasculopathy. The Single Nucleotide Polymorphisms BCL11A rs4671393, BCL11A rs11886868, BCL11A rs1427407 and HMIP rs9399137 were associated with the group of children with HbF> 10%. The survival analysis without occurrence of cerebral vasculopathy showed that the group of patients with HbF> 10% presented a significant risk of early onset of cerebral vasculopathy. Conclusions: The most remarkable result of our study was the association of SNPs with the phenotypic groups that we aimed to determine. BCL11A rs4671393, BCL11A rs11886868, BCL11A rs1427407 and HMIP rs9399137 were correlated with the HbF group> 10%, which presents a higher risk of cerebral vasculopathy and would be oriented towards the hemolytic sub-phenotype.

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Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea

Cited by 28 publications

References 62 publications

Hematopoietic stem cell transplantation in children with sickle cell anemia: The parents’ experience

Hematopoietic stem cell transplantation in children with sickle cell anemia: The parents’ experience

Combined and differential effects of alpha‐thalassemia and HbF‐quantitative trait loci in Senegalese hydroxyurea‐free children with sickle cell anemia

High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.

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