Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.

Tytuł:: Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics.
Autorzy:: Thongbut J; Center of Research and Innovation, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.; National Blood Centre, Thai Red Cross Society, Bangkok, Thailand.
Laengsri V; Center of Research and Innovation, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
Raud L; Univ Brest, Inserm, EFS, Brest, France.
Promwong C; National Blood Centre, Thai Red Cross Society, Bangkok, Thailand.; Sunpasitthiprasong Hospital, Ubon Ratchathani, Thailand.
I-Na-Ayudhya C; Department of Clinical Microbiology and Applied Technology, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
Férec C; Univ Brest, Inserm, EFS, Brest, France.; Service de Génétique Médicale, CHRU Brest, Brest, France.
Nuchnoi P; Center of Research and Innovation, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.; Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
Fichou Y; Univ Brest, Inserm, EFS, Brest, France.; Laboratory of Excellence GR-Ex, Paris, France.
Źródło:: Transfusion [Transfusion] 2021 Mar; Vol. 61 (3), pp. 931-938. Date of Electronic Publication: 2020 Dec 29.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: Arlington, Va. : American Association Of Blood Banks
MeSH Terms:: Blood Donors/*statistics & numerical data
Rh-Hr Blood-Group System/*genetics
Alleles ; Gene Frequency ; Genotype ; Humans ; Multiplex Polymerase Chain Reaction ; Phenotype ; Prevalence ; Rh-Hr Blood-Group System/immunology ; Sequence Analysis, DNA ; Serologic Tests ; Thailand
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Grant Information:: PHC SIAM 2019 (project n°42864RD) Campus France
Substance Nomenclature:: 0 (Rh-Hr Blood-Group System)
Entry Date(s):: Date Created: 20201230 Date Completed: 20210714 Latest Revision: 20210714
Update Code:: 20240105
DOI:: 10.1111/trf.16242
PMID:: 33377204
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Background: Knowledge of the molecular determinants driving antigen expression is critical to design, optimize, and implement a genotyping approach on a population-specific basis. Although RHD gene variability has been extensively reported in Caucasians, Africans, and East-Asians, it remains to be explored in Southeast Asia. Thus the molecular basis of non-D+ blood donors was investigated in Thailand.
Study Design and Methods: First, 1176 blood samples exhibiting an inconclusive or negative result by automated serological testing were collected in the 12 Regional Blood Centres of the Thai Red Cross located throughout Thailand. Second, the RHD gene was analyzed in all samples by 1) quantitative multiplex PCR of short fluorescent fragments, and 2) direct sequencing, when necessary, for identifying structural variants and single nucleotide variants, respectively.
Results: Additional serological typing yielded 51 and 1125 samples with weak/partial D and D-negative (D-) phenotype, respectively. In the first subset, partial RHD*06.03 was the most common variant allele (allele frequency: 18.6%). In the second subset, the whole deletion of the gene is largely the most frequent (allele frequency: 84.9%), followed by the Asian DEL allele found in 15.6% of the samples. Eight novel alleles with various mutational mechanisms were identified.
Conclusion: We report, for the first time at the national level, the molecular basis of weak/partial D and serologically D- phenotypes in Thai blood donors. The design and implementation of a dedicated diagnostic strategy in blood donors and patients are the very next steps for optimizing the management and supply of RBC units in Thailand.
(© 2020 AABB.)

Erratum in: Transfusion. 2021 May 17;:. (PMID: 34002393)

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