Transfusion Support of Minority Patients: Extended Antigen Donor Typing and Recruitment of Minority Blood Donors

Khan, Jenna; Delaney, Meghan

doi:10.1159/000491883

Cited by 25 publications

(22 citation statements)

References 33 publications

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“…Although routine blood product selection currently focuses on donor‐recipient ABO/Rh compatibility, extended RBC antigen matching is advocated in a growing number of clinical situations. Patients expressing multiple red cell antibodies, those at risk for developing antibodies such as chronically transfused sickle cell disease patients, and patients likely to be treated with monoclonal antibodies that interfere with serologic typing all benefit from extended matching [4,5]. Various genotyping platforms have proven valuable and effective for determining extended RBC antigen phenotypes in these and other clinical settings [6].…”

Section: Introductionmentioning

confidence: 99%

An open‐source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing

Montemayor

Simone

Long³

et al. 2021

Vox Sanguinis

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Background and objectives Next generation sequencing (NGS) has promising applications in transfusion medicine. Exome sequencing (ES) is increasingly used in the clinical setting, and blood group interpretation is an additional value that could be extracted from existing data sets. We provide the first release of an open‐source software tailored for this purpose and describe its validation with three blood group systems. Materials and methods The DTM‐Tools algorithm was designed and used to analyse 1018 ES NGS files from the ClinSeq® cohort. Predictions were correlated with serology for 5 antigens in a subset of 108 blood samples. Discrepancies were investigated with alternative phenotyping and genotyping methods, including a long‐read NGS platform. Results Of 116 genomic variants queried, those corresponding to 18 known KEL, FY and JK alleles were identified in this cohort. 596 additional exonic variants were identified KEL, ACKR1 and SLC14A1, including 58 predicted frameshifts. Software predictions were validated by serology in 108 participants; one case in the FY blood group and three cases in the JK blood group were discrepant. Investigation revealed that these discrepancies resulted from (1) clerical error, (2) serologic failure to detect weak antigenic expression and (3) a frameshift variant absent in blood group databases. Conclusion DTM‐Tools can be employed for rapid Kell, Duffy and Kidd blood group antigen prediction from existing ES data sets; for discrepancies detected in the validation data set, software predictions proved accurate. DTM‐Tools is open‐source and in continuous development.

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Section: Introductionmentioning

confidence: 99%

An open‐source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing

Montemayor

Simone

Long³

et al. 2021

Vox Sanguinis

View full text Add to dashboard Cite

show abstract

“…Similar concepts for the extended matched blood supply are established in different countries worldwide [34,35,36,37]. …”

Section: Discussionmentioning

confidence: 99%

Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens

Portegys

Rink

Bloos

et al. 2018

Transfus Med Hemother

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Background: The provision of compatible blood products to patients is the most essential task of transfusion medicine. Besides ABO and Rh, a number of additional blood group antigens often have to be considered for the blood supply of immunized or chronically transfused patients. It also applies for platelet antigens (HPA) and neutrophil antigens (HNA) for patients receiving platelet or granulocyte concentrates. Here, we describe the molecular screening for a number of blood group, HPA, and HNA alleles. Based on the screening results we are building up a regional blood donor registry to provide extended matched blood products on demand. Methods: We developed and validated TaqMan™ PCR and PCR-SSP methods for genetic markers defining 37 clinically relevant blood group antigens (beyond ABO and Rh), 10 HPA, and 11 HNA. Furthermore, we describe a feasible method for fast molecular screening of the HNA-2^null phenotype. All data were statistically evaluated regarding genotype distribution. Allele frequencies were compared to ExAC data from non-Finnish Europeans. Results: Up to now more than 2,000 non-selected regular blood donors in south-west Germany have been screened for blood group, HPA, and HNA alleles. The screening results were confirmed by serology and PCR-SSP methods for selected numbers of samples. The allele frequencies were similar to non-finnish Europeans in the ExAC database except for the alleles encoding the S, HPA-3b and HNA-4b antigens, with significantly lower prevalence in our cohort, as well as the LU14 and the HNA-3b antigens, with a higher frequency compared to the ExAC data. We identified 71 donors with rare blood groups such as Lu(a+b-), Kp(a+b-), Fy(a-b-) and Vel-, and 169 donors with less prevalent HPA or HNA types. Conclusion: Molecular screening for blood group alleles by using TaqMan™ PCR is an effective and reliable high-throughput method for establishing a rare donor registry.

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“…Many hospital transfusion services have implemented policies for the prophylactic provision of antigen‐matched RBCs to their patients with SCD to reduce alloimmunization 33 . Yet again, this presents unique challenges to BC facilities to provide RBCs that are phenotypically matched, largely because of genetic differences between the donor population (predominantly of European descent) vs patients with SCD (predominantly of African or Mediterranean descent) 34 . Chronically transfused patients with β‐thalassemia (predominantly of Mediterranean or Asian descent) also have high rates of alloimmunization, presenting additional challenges to provide compatible RBCs 35 .…”

Section: Donationmentioning

confidence: 99%

Maintaining adequate donations and a sustainable blood supply: Lessons learned

et al. 2020

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Background The availability of a safe blood supply is a key component of transfusion medicine. A decade of decreased blood use, decreased payment for products, and a dwindling donor base have placed the sustainability of the US blood supply at risk. Study Design and Methods A literature review was performed for blood center (BC) and hospital disaster management, chronically transfusion‐dependent diseases, and appropriate use of group O‐negative red blood cells (RBCs), and the Choosing Wisely campaign. The aim was to identify current practice and to make recommendations for BC and hospital actions. Results While BCs are better prepared to handle disasters than after the 9/11 attacks, messaging to the public remains difficult, as donors often do not realize that blood transfused during a disaster was likely collected before the event. BCs and transfusion services should participate in drafting disaster response plans. Hospitals should maintain inventories adequate for patients in the event supply is disrupted. Providing specialty products for transfusion‐dependent patients can strain collections, lead to increased use of group O RBCs, and create logistical inventory challenges for hospitals. The AABB Choosing Wisely initiative addresses overuse of blood components to optimally use this precious resource. Group O‐negative RBCs should be transfused only to patients who truly need them. Conclusions Collecting and maintaining a blood supply robust enough to handle disasters and transfusion‐dependent patients in need of specialty products is challenging. Collaboration of all parties should help to optimize resources, ensure appropriate collections, improve patient care, and ultimately result in a robust, sustainable blood supply.

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Transfusion Support of Minority Patients: Extended Antigen Donor Typing and Recruitment of Minority Blood Donors

Cited by 25 publications

References 33 publications

An open‐source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing

An open‐source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing

Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens

Maintaining adequate donations and a sustainable blood supply: Lessons learned

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