Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

Chou, Stella T.; Flanagan, Jonathan M.; Vege, Sunitha; Luban, Naomi L.C.; Brown, Robert C.; Ware, Russell E.; Westhoff, Connie M.

doi:10.1182/bloodadvances.2017007898

Cited by 66 publications

(81 citation statements)

References 22 publications

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“…Several studies have reported allele prevalences for other populations [18,19,44,45,46]. Partial RH2 antigens appear to be particularly prevalent in mainland France, whereas partial RH1 antigens are more prevalent in Guadeloupe and French Guiana.…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of partial RH antigens and variant RH alleles in SCD patients has recently been investigated in France [11,17] and elsewhere [15,18,19]. SCD patients with variant alleles have been shown to have a higher risk of alloimmunization, in both these and other studies [20].…”

Section: Part I: Overview and Presentation Of The French Strategymentioning

confidence: 99%

“…However, the partial status of the RH4 and RH5 antigens produced by alleles ce(733) (RHCE*01.20.01) and ce(48,733) (RHCE*01.20.02) remains a matter of debate . It is now agreed that no partial antigen is produced for ce(48) (RHCE*01.01) allele [19]. In France, the ce(733) (RHCE*01.20.01) and ce(48,733) (RHCE*01.20.02) alleles are not considered to produce partial antigens either.…”

Section: Part Ii: Review Of the French Strategy At Lihm Créteil Betwementioning

confidence: 99%

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Genotyping in Sickle Cell Disease Patients: The French Strategy

Floch

Tournamille

Chami

2018

Transfus Med Hemother

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This review presents the French strategy for blood group genotyping in high-responder and newly diagnosed sickle cell disease (SCD) patients. In addition to FY, JK, and MNS genotyping, the RH blood group system is now explored in SCD patients in France. Molecular typing has been used for the deduction of partial RH2 (C) antigens since 2010, and the gradual implementation of systematic RHD and RHCE genotyping nationwide was initiated in late 2014. In our laboratory, 962 RH:2 (C-positive) SCD patients have been tested since 2010, and 1,148 SCD patients of all RH phenotypes have been genotyped for clinically relevant alleles of RHD and RHCE since late 2014.

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Section: Discussionmentioning

confidence: 99%

Section: Part I: Overview and Presentation Of The French Strategymentioning

confidence: 99%

Section: Part Ii: Review Of the French Strategy At Lihm Créteil Betwementioning

confidence: 99%

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Genotyping in Sickle Cell Disease Patients: The French Strategy

Floch

Tournamille

Chami

2018

Transfus Med Hemother

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“…A number of successful clinical applications have been reported, and further efforts are under way in the areas of oncology, hemostasis, obstetrics, and pharmacology to identify the clinical benefits of genomic medicine . Transfusion medicine is an additional discipline with a strong genetics foundation that is exploring this approach …”

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confidence: 99%

Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project

et al. 2018

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BACKGROUND The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations. This database can enrich our background knowledge of worldwide blood group variant geographic distribution and identify novel variants of potential clinical significance. STUDY DESIGN AND METHODS The 1000 Genomes database was analyzed to 1) expand knowledge about continental distributions of known blood group variants, 2) identify novel variants with antigenic potential and their geographic association, and 3) establish a baseline scaffold of chromosomal coordinates to translate next‐generation sequencing output files into a predicted red blood cell (RBC) phenotype. RESULTS Forty‐two genes were investigated. A total of 604 known variants were mapped to the GRCh37 assembly; 120 of these were reported by 1000 Genomes in at least one superpopulation. All queried variants, including the ACKR1 promoter silencing mutation, are located within exon pull‐down boundaries. The analysis yielded 41 novel population distributions for 34 known variants, as well as 12 novel blood group variants that warrant further validation and study. Four prediction algorithms collectively flagged 79 of 109 (72%) known antigenic or enzymatically detrimental blood group variants, while 4 of 12 variants that do not result in an altered RBC phenotype were flagged as deleterious. CONCLUSION Next‐generation sequencing has known potential for high‐throughput and extended RBC phenotype prediction; a database of GRCh37 and GRCh38 chromosomal coordinates for 120 worldwide blood group variants is provided as a basis for this clinical application.

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“…Next-generation or massive parallel sequencing have proven the principle for blood group determination in such patients, but are still under further development and therefore not addressed within this issue [5,6,7]. Based on their everyday experiences, however, Castilho and Dinardo [8] are reporting on the ‘Brazilian Way', and Floch et al [9] on the ‘French Strategy' to support SCD patients by best matching strategies and the meaning of blood group genotyping in this context.…”

mentioning

confidence: 99%