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Updated: Apr 10, 2026
Sequencing of mRNA from Whole Blood using Nanopore Sequencing
Published on: June 3, 2019
Rhesus blood group haplotype determination by nanopore sequencing and adaptive sampling enables the precise
Rebekka Waldmann1, Marita Führer1, Annika Vogt1
1Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen and Ulm University Hospital, Ulm, Germany.
Background:
Patients with chronic transfusion needs such as those with sickle cell disease face a high risk of developing antibodies against high-prevalence antigens in the RH blood group system, complicating transfusion therapy and potentially necessitating stem cell transplantation. Molecular characterization of the RH system is hindered by hybrid alleles and high sequence homology between RHD and RHCE, limiting the effectiveness of conventional short-read sequencing.
Study Design And Methods:
We analyzed 11 control and 20 patient samples, some of which could not be reliably genotyped by standard methods.
Results:
Nanopore sequencing with adaptive sampling enables targeted, amplification-free long-read sequencing of the RH locus, resolving homologous and complex hybrid structures and enabling complete haplotype phasing for all samples, including samples that could not be accurately determined by standard methods like serology and short-read sequencing. Four new alleles were identified and for 13 out of 20 patients the results led to a change in the transfusion regimen.
Discussion:
These findings show that nanopore sequencing with adaptive sampling allows unambiguous genotyping of the RH system, improves detection of complex variants, and supports better-matched transfusion strategies for chronically transfused patients.
