Using next-generation sequencing to clarify the parental RhD genotypes of a child with acute leukemia - A case report and review of the literature.
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Utilization of next-generation sequencing (NGS) for blood group antigen genotyping is rapidly emerging as a promising methodology, gradually finding its place in routine clinical screening, especially to provide confirmatory conclusions for serologically discrepant samples. Our case presents the genetic insights into the blood group profiles of an Indian family for whom serological findings yielded inconclusive results. In this clinical vignette, a 7-year-old leukemia patient's blood group was initially reported as AB, RhD positive but later determined to be AB, RhD negative on multiple re-evaluations. The father's blood group was B, RhD negative, and the mother's blood group was A, RhD positive. While conventional genotyping methods such as polymerase chain reaction yielded inconclusive results, we employed an amplicon sequencing approach, which facilitates targeted sequencing and focused analysis of particular genomic loci, to elucidate and interpret the genetic basis of these blood group discrepancies. This case demonstrates the utility of NGS in complex immunohematological cases and introduces a computational workflow for precise RhD genotype prediction.