Abstract：
OBJECTIVE: 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 R1 R1 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.
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.
CONCLUSIONS: 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).
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.
CONCLUSIONS: 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).
摘要：
目的：抗-D通常具有免疫性，在缺乏D抗原或具有变体/改变的D表型的个体中形成。在印度人口中，93.8%为RhD阳性,R1是最常见的Rh表型。在这里，我们报告了RhD阳性3个月大的婴儿中罕见且有趣的自身免疫性抗D病例，导致温暖的自身免疫性溶血性贫血。
方法：通过直接抗球蛋白试验等免疫血液学技术进行血清学检测，抗体检测和鉴定，二硫苏糖醇，酶处理，抗体滴定和洗脱。进行分子研究以排除RhD的遗传变异。
结果：洗脱液中证实抗D，洗脱后血型为BRhD阳性。在使用印度特异性RHD基因分型测定法进行基因分型时，发现该样本对RHD*01W.150(印第安人中最常见的RhD变异体)呈阴性,但对RHD外显子5和RHD外显子10以及甘油醛-3-磷酸脱氢酶(GAPDH)呈阳性.通过Sanger测序进一步对样品进行RHD外显子1-10测序，发现为野生型，因此，排除了RhD变种的存在.
结论：由于在如此年轻（3个月）的RhD阳性患者中罕见发生自身免疫性抗D，因此该病例引起了人们的兴趣。据我们所知,仅有2例关于婴儿期自身免疫性抗D的病例报告发表(1961年和1964年).
方法：通过直接抗球蛋白试验等免疫血液学技术进行血清学检测，抗体检测和鉴定，二硫苏糖醇，酶处理，抗体滴定和洗脱。进行分子研究以排除RhD的遗传变异。
结果：洗脱液中证实抗D，洗脱后血型为BRhD阳性。在使用印度特异性RHD基因分型测定法进行基因分型时，发现该样本对RHD*01W.150(印第安人中最常见的RhD变异体)呈阴性,但对RHD外显子5和RHD外显子10以及甘油醛-3-磷酸脱氢酶(GAPDH)呈阳性.通过Sanger测序进一步对样品进行RHD外显子1-10测序，发现为野生型，因此，排除了RhD变种的存在.
结论：由于在如此年轻（3个月）的RhD阳性患者中罕见发生自身免疫性抗D，因此该病例引起了人们的兴趣。据我们所知,仅有2例关于婴儿期自身免疫性抗D的病例报告发表(1961年和1964年).
