一名中国人患有由新型 RHD 等位基因引起的 DEL 表型。

IF 1.4 4区医学 Q4 HEMATOLOGY Transfusion and Apheresis Science Pub Date : 2024-07-23 DOI:10.1016/j.transci.2024.103973

Fan Wu , Ya-dan Luo , Shuang Liang , Li-yan Sun , Tong Liu , Yan-lian Liang , Yu-qing Su

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引用次数: 0

摘要

背景RhD变体分为部分D、弱D和DEL。DEL 的检测只能通过吸附洗脱法或分子技术来实现。研究设计与方法我们采用了生理盐水、间接抗人球蛋白和吸附洗脱等血清学方法。结果通过血清学检测发现样本中的红细胞为 DEL 表型，生理盐水和间接抗人球蛋白检测为阴性反应，而吸附洗脱法为阳性反应。基因分型结果显示为半等位基因（RHDc .1127 T>G/RHD-）。结论我们的研究证明了一例由新型等位基因 RHD c .1127 T > G 引起的中国 DEL 表型患者。

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A Chinese individual with DEL phenotype caused by a novel RHD allele

Background

RhD variants are categorized into partial D, weak D, and DEL. The detection of DEL can only be achieved through the adsorption and elution method or molecular techniques. Here, we report a case of DEL phenotypes associated with a novel allele in a Chinese individual.

Study design and methods

We used serological methods such as saline, indirect anti-human globulin, and adsorption-elution. The RHD genotype was determined by the PCR-sequence specific primer (PCR-SSP) method as well as the Sanger dideoxy sequencing.

Results

RBCs of the sample were found to be DEL phenotype by serological testing, with negative reactions in the saline and indirect anti-human globulin tests while positive reactions by the absorption–elution method. The genotyping results revealed a hemizygous (RHD^{c .1127 T>G}/RHD-). The novel allele sequence has been submitted to GenBank (Accession number: OR608456).

Conclusion

Our study demonstrates a case of a Chinese individual with DEL phenotype caused by a novel allele RHD c .1127 T > G. It expands the database of the DEL variant.

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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.