基因分型
抗体
抗原
外显子
免疫学
医学
生物
分子生物学
基因型
遗传学
基因
作者
Sheetal Malhotra,Manisha Roy,Disha Parchure,Mamadou Kaba,Ashish Jain,Shrikant Kulkarni,Deepak Bansal,Ratti Ram Sharma
摘要
Abstract Background and Objectives Anti‐D is usually immune in nature and is formed in individuals lacking D antigen or having variants/altered D phenotypes. In the Indian population, 93.8% are RhD positive, and R 1 R 1 is the commonest Rh phenotype. Here we report a rare and interesting case of autoimmune anti‐D in an RhD‐positive 3‐month‐old infant leading to warm autoimmune haemolytic anaemia. Study Design and Methods Auto‐anti‐D was detected serologically by immunohaematological techniques such as direct antiglobulin test, antibody detection and identification, dithiothreitol, enzyme treatment, antibody titration and elution. Molecular studies were performed to rule out genetic variants of RhD. Results Anti‐D was confirmed in eluate and blood group post elution was B RhD positive. On genotyping using the Indian‐specific RHD genotyping assay, the sample was found to be negative for the RHD*01W.150 (most common RhD variant in Indians) but positive for RHD exon 5 and RHD exon 10 along with glyceraldehyde‐3‐phosphate dehydrogenase ( GAPDH ). The sample was further sequenced for RHD exons 1–10 by Sanger sequencing and found to be a wild type, thus, ruling out the presence of an RhD variant. Conclusion This case is of interest because of the rare occurrence of autoimmune anti‐D in an RhD‐positive patient of such a young age (3 months). To the best of our knowledge, only two case reports have been published on autoimmune anti‐D in infancy (in 1961 and 1964).
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