Precision diagnostics in Transfusion Medicine: Advancing accuracy in Bombay blood group typing through molecular methods

IF 1.4 4区医学 Q4 HEMATOLOGY

Transfusion and Apheresis Science Pub Date : 2025-03-28 DOI:10.1016/j.transci.2025.104114

Shamee Shastry , Akshay Chopra , Yew-Wah Liew , Glenda Millard , Deepika Chenna , Ganesh Mohan , Deep Madkaiker

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引用次数: 0

Abstract

Background

Integration of precision diagnosis in Immunohaematology and Transfusion Medicine has led to the development of more refined blood typing and crossmatching techniques, ensuring improved accuracy of blood group determination, thereby reducing the incidence of transfusion reactions and enhancing patient safety. It can also help resolve complex discrepancies noted in serological testing methods.

Study design and methods

The blood grouping of a 40 year old female patient done as a part of routine health check using column agglutination technology showed a O group phenotype with additional reaction with O cells in the serum group. Anti-H lectin study confirmed the absence of H antigen, with a Lewis Le(a+b-) phenotype, typing the patient as Classical Bombay phenotype. Further molecular workup was performed.

Results

An in-house designed panel enabling comprehensive genotyping for 45 blood group systems and transcription factors KLF1 and GATA1 was used. Sequencing covering the ABO gene predicted the presence of the ABO*O.01.01 and ABO*O.01.02 alleles and the group O phenotype. Combined results of the sequencing analysis identified ABO*O.01.01/*O.01.02, FUT1*01N.09/*01N.09 and FUT2*01/*01 with the predicted phenotype of H-deficient; secretor (para-Bombay). Oh-secretor shows the patient is genetically a ParaBombay since there is an active secretor gene, but phenotyped as Le(a+b-) due to the reduction in Lewis enzyme function by the FUT3 mutations. Hence the patient is classified as a paraBombay, even though the Lewis phenotype make the patient appeared to be a classical Bombay.

Conclusion

Integration of precision diagnostics into transfusion therapy improves transplant and transfusion safety.

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来源期刊

Transfusion and Apheresis Science 医学-血液学

CiteScore

3.60

自引率

5.30%

发文量

181

审稿时长

42 days

期刊介绍： Transfusion and Apheresis Science brings comprehensive and up-to-date information to physicians and health care professionals involved in the rapidly changing fields of transfusion medicine, hemostasis and apheresis. The journal presents original articles relating to scientific and clinical studies in the areas of immunohematology, transfusion practice, bleeding and thrombotic disorders and both therapeutic and donor apheresis including hematopoietic stem cells. Topics covered include the collection and processing of blood, compatibility testing and guidelines for the use of blood products, as well as screening for and transmission of blood-borne diseases. All areas of apheresis - therapeutic and collection - are also addressed. We would like to specifically encourage allied health professionals in this area to submit manuscripts that relate to improved patient and donor care, technical aspects and educational issues. Transfusion and Apheresis Science features a "Theme" section which includes, in each issue, a group of papers designed to review a specific topic of current importance in transfusion and hemostasis for the discussion of topical issues specific to apheresis and focuses on the operators'' viewpoint. Another section is "What''s Happening" which provides informal reporting of activities in the field. In addition, brief case reports and Letters to the Editor, as well as reviews of meetings and events of general interest, and a listing of recent patents make the journal a complete source of information for practitioners of transfusion, hemostasis and apheresis science. Immediate dissemination of important information is ensured by the commitment of Transfusion and Apheresis Science to rapid publication of both symposia and submitted papers.