Estimating the serological underrecognition of patients with weak or partial RHD variants

• DOI: 10.1111/trf.17810
• Publication Date: 2024-04-18T07:03:57Z
• Authors: Glenn Ramsey; Christina M. Barr...
• Keywords: Male; Rh-Hr Blood-Group System; Genotype; White; Anemia, Sickle Cell; Hispanic or Latino; Polymorphism, Single Nucleotide; Black or African American; 03 medical and health sciences; Phenotype; 0302 clinical medicine; Gene Frequency; Humans; Female

Abstract Background For patients with weak or discrepant RhD RBC phenotypes, RHD genotyping is employed to determine need for RhD‐negative management. However, many variants are type D‐negative D‐positive. Serological recognition rates (RRs) of and partial poorly characterized. Study Design Methods Four US studies employing phenotypes provided data race/ethnicity‐specific serological recognition. Three used microplate, 1 gel tube; 2 had anti‐D data. We obtained White Hispanic/Latino allele frequencies (AFs) D types 1, 2, 3 single‐nucleotide (SNVs) from the Genome Aggregation Database (gnomAD, v4.0.0) devised Hardy–Weinberg‐based formulas correct gnomAD's overcount hemizygous SNVs as homozygous. compiled common AF genotyped cohorts Black sickle cell disease subjects. From variant AF, we calculated hemizygous‐plus‐homozygous genetic prevalences. prevalence: prevalence ratios yielded RRs. Results Overall RRs 1–3 were 17% (95% confidence interval 12%–24%) in Whites 12% (5%–27%) Hispanics/Latinos. eight Blacks, overall RR was 11% (8%–14%). DAR 80% (38%–156%). Compared gel–tube higher DAU5 lower 4.0. Anti‐D present 6% recognized cases, but only 0.7% estimated total cases. Discussion Based on >80% unrecognized serologically. Although low, better detection desirable.