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Genetics of Human Blood Group Antigens
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Genetics of Human Blood Group Antigens

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (1 April 2022) | Viewed by 5050

Special Issue Editors

Dr. Kshitij Srivastava

E-Mail Website
Guest Editor
Department of Transfusion Medicine, NIH Clinical Center, National Institutes of Health, Bethesda, MD, 20892, USA
Interests: human cancer genetics; developmental genetics; human blood group genetics
Dr. Anvesha Srivastava

E-Mail Website
Guest Editor
Division of Renal Diseases and Hypertension, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, USA
Interests: biomarker discovery; noncoding RNA; chronic kidney disease; kidney transplantation

Special Issue Information

Dear Colleagues,

More than 120 years after the identification of the first blood group system by Karl Landsteiner, the field has now evolved to include 43 blood group systems encoded by 48 genes. Researchers worldwide are dedicated to the management of safe blood transfusion through implementing clinical practice guidelines in both hospital and blood bank settings.

With a rapid progress in the development of molecular typing methods, screening of red cell antigens at the nucleotide level has recently gained global interest. This Special Issue aims to focus on articles showcasing novel and international research in human blood group genetics, spanning the field from discovery to clinical implementation. Manuscripts on the following topics will be considered for publication and are encouraged:

  • Identification of novel alleles in blood group systems;
  • Multiethnic and diverse population research;
  • Variant/haplotype discovery and/or functional characterization;
  • Novel blood group genotyping technologies;
  • Molecular assay validation and experience;
  • Clinical implementation and/or utility studies;
  • Clinical provider knowledge and education.

Dr. Kshitij Srivastava
Dr. Anvesha Srivastava
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • human blood group
  • genetics
  • alleles
  • haplotypes
  • allo-immunization
  • transfusion
  • RhIG

Published Papers (2 papers)

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Research

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6 pages, 228 KiB  
Article
Investigation of Dombrock Blood Group Alleles and Genotypes among Saudi Blood Donors in Southwestern Saudi Arabia
by Amr J. Halawani, Abdullah S. Mansor, Hamza M. Assaggaf, Hibah A. Almasmoum, Hisham I. Abu-Tawil, Khalaf F. Alsharif, Gasim Dobie and Mahmoud M. Habibullah
Genes 2022, 13(6), 1079; https://doi.org/10.3390/genes13061079 - 17 Jun 2022
Cited by 1 | Viewed by 2365
Abstract
The Dombrock (DO) blood group system has two primary antigens, Doa and Dob, which can cause delayed hemolytic transfusion reactions. The paucity of specific monospecific antibodies can hamper the typing based on these antigens. Thus, blood group genotyping (BGG) was [...] Read more.
The Dombrock (DO) blood group system has two primary antigens, Doa and Dob, which can cause delayed hemolytic transfusion reactions. The paucity of specific monospecific antibodies can hamper the typing based on these antigens. Thus, blood group genotyping (BGG) was investigated as a possible solution. Sequence-specific primers were designed to target a single nucleotide polymorphism (rs11276) on the ART4 gene encoding the DO*A and DO*B alleles. Blood samples (n = 150) from randomly selected volunteer donors were used. DNA was extracted and resulting PCR products were purified and sequenced. The allelic frequencies of DO*A and DO*B were (n = 122, 40.67%) and (n = 178, 59.33%), respectively. The distributions of DO genotypes were as follows: DO*A/DO*A (n = 20), 13.33%; DO*B/DO*B (n = 48), 32.00%; and DO*A/DO*B (n = 82), 54.67%. In conclusion, this study reports on the allelic frequencies of DO*A and DO*B of the DO blood group system in Jazan Province, Kingdom of Saudi Arabia. Furthermore, this study reports on the prevalence of each genotype, of which DO*A/DO*B was the most abundant. This study contributes significantly to build the current blood donor database in Southwestern Saudi Arabia. Moreover, it may assist in providing safe blood to polytransfused patients and reduce the risk of the red cell alloimmunization. Full article
(This article belongs to the Special Issue Genetics of Human Blood Group Antigens)

Review

Jump to: Research

10 pages, 7282 KiB  
Review
Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France
by Pascal Pedini, Lugdivine Filosa, Nelly Bichel, Christophe Picard, Monique Silvy, Jacques Chiaroni, Caroline Izard, Laurine Laget and Stéphane Mazières
Genes 2022, 13(6), 1058; https://doi.org/10.3390/genes13061058 - 14 Jun 2022
Cited by 2 | Viewed by 2100
Abstract
Immunohematology laboratories are regularly facing transfusion issues due to serological weaknesses. Altered (partial) RH antigens account for most of them. In some situations, RHCE variant alleles are involved. Herein we present our three-step molecular exploration, with allele frequencies, that has efficiently untangled RH2 [...] Read more.
Immunohematology laboratories are regularly facing transfusion issues due to serological weaknesses. Altered (partial) RH antigens account for most of them. In some situations, RHCE variant alleles are involved. Herein we present our three-step molecular exploration, with allele frequencies, that has efficiently untangled RH2 phenotype weaknesses and discrepancies in our 2017–2021 cohort. In the last 5 years, the PACA Corse EFS molecular platform received 265 samples from healthy blood donors or patients with C and C/e typing difficulties. The first-intention technique (DNA array and real time PCR for RHCE*CeRN research) detected RHCE variant alleles in 143 cases (54%). The RHCE alleles classically found in African populations were the most frequent, with RHCE*CeRN allele in 40 cases (15%) and (C)ces haplotype type 1 and 2 in 26 cases (10%). A “CE” effect haplotype was suspected in 56 cases, due to the uncommon DCE haplotype that may explain the low C expression. When there were no RHCE*Ce or RHCE*CE alleles, we then searched for RHD polymorphisms by DNA array. We detected the RHD*DAU5 and RHD*DIVa in 18 and 7 cases respectively, suggesting that C ambiguity is related to the presence of these alleles which has never been described with DAU5. If no variant RHCE and RHD alleles were detected, we finally sequenced the 10 exons of both RHCE and RHD genes according to the clinical context and found seven new RHCE alleles. Thus, this molecular strategy would improve the knowledge of RHCE variants’ expression and, thus, optimize the transfusion management. Full article
(This article belongs to the Special Issue Genetics of Human Blood Group Antigens)
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