A serological and molecular study on a case of Rh blood group mosaicism

IF 1.4 4区医学 Q4 HEMATOLOGY

Transfusion and Apheresis Science Pub Date : 2025-03-21 DOI:10.1016/j.transci.2025.104111

Mingwei Yin , Xinyu Huang , Jing Pian , Jihua Ma , Xiaozhen Hong , Xuejun Chen , Xianguo Xu

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Abstract

Background

Mosaicism refers to the presence of two or more genetically different cell lines within a single individual, the majority of which are accidentally discovered through routine blood group identification. Here, we report one case of Rh blood group mosaicism in a 10-year-old Chinese male.

Methods

Serological tests for the Rh blood group were performed via gel microcolumn tests and saline methods. Mosaic red blood cells (RBCs) were quantified via flow cytometry. The G-banded karyotype was analyzed at a 550-band resolution. Short tandem repeat (STR) analysis was used to compare the allele repeats at specific loci in DNA between blood, buccal mucosal, and hair shaft samples.

Results

Mixed-field agglutination with anti-C and anti-e antibodies was identified in the gel microcolumn test. The proportion of those positive for the C antigen was 47.26 %, while that of the negative ones was 52.74 %, as calculated by flow cytometry, and the double populations were identified as DCcEe- and DccEE-phenotype RBCs by multiple centrifugations. Karyotype analysis revealed 46, XY in the proband. STR analysis revealed that additional paternal alleles were present at the D1S1656, CSF1PO, and Penta D loci.

Conclusion

An individual with natural Rh blood group mosaicism was identified.

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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.