Genotyping and the Future of Transfusion in Sickle Cell Disease

Karafin, Matthew S.; Howard, Jo

doi:10.1016/j.hoc.2022.07.012

Cited by 2 publications

(1 citation statement)

References 63 publications

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“…11 Rh variant antigens can be difficult to define serologically; therefore, some advocate for RH genotyping to identify those with partial antigens for whom donor selection can be modified. 12 In addition, unexpected Rh antibodies occur in patients with conventional RH alleles or in those who received antigen-negative units, 4,11 implicating donor red cells expressing variant Rh as the cause of alloimmunization. 6 Thus, identifying RH variants among both patients and donors is important, and RH genotype-matched red cells may be necessary for optimal prevention of alloimmunization.…”

Section: Introductionmentioning

confidence: 99%

RH genotypes and red cell alloimmunization rates in chronically transfused patients with sickle cell disease: A multisite study in the USA

Israelyan,

Vege,

Friedman

et al. 2024

Transfusion

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BackgroundRed cell alloimmunization remains a challenge for individuals with sickle cell disease (SCD) and contributes to increased risk of hemolytic transfusion reactions and associated comorbidities. Despite prophylactic serological matching for ABO, Rh, and K, red cell alloimmunization persists, in part, due to a high frequency of variant RH alleles in patients with SCD and Black blood donors.Study Design and MethodsWe compared RH genotypes and rates of alloimmunization in 342 pediatric and young adult patients with SCD on chronic transfusion therapy exposed to >90,000 red cell units at five sites across the USA. Genotyping was performed with RHD and RHCE BeadChip arrays and targeted assays.ResultsPrevalence of overall and Rh‐specific alloimmunization varied among institutions, ranging from 5% to 41% (p = .0035) and 5%–33% (p = .0002), respectively. RH genotyping demonstrated that 33% RHD and 57% RHCE alleles were variant in this cohort. Patients with RHCE alleles encoding partial e antigens had higher rates of anti‐e identified than those encoding at least one conventional e antigen (p = .0007). There was no difference in anti‐D, anti‐C, or anti‐E formation among patients with predicted partial or altered antigen expression compared to those with conventional antigens, suggesting that variant Rh on donor cells may also stimulate alloimmunization to these antigens.DiscussionThese results highlight variability in alloimmunization rates and suggest that a molecular approach to Rh antigen matching may be necessary for optimal prevention of alloimmunization given the high prevalence of variant RH alleles among both patients and Black donors.

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Section: Introductionmentioning

confidence: 99%

RH genotypes and red cell alloimmunization rates in chronically transfused patients with sickle cell disease: A multisite study in the USA

Israelyan,

Vege,

Friedman

et al. 2024

Transfusion

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When and why is red blood cell genotyping applicable in transfusion medicine: a systematic review of the literature

Akinbolaji

2024

Immunohematology

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This review aims to provide a better understanding of when and why red blood cell (RBC) genotyping is applicable in transfusion medicine. Articles published within the last 8 years in peer-reviewed journals were reviewed in a systematic manner. RBC genotyping has many applications in transfusion medicine including predicting a patient’s antigen profile when serologic methods cannot be used, such as in a recently transfused patient, in the presence of autoantibody, or when serologic reagents are not available. RBC genotyping is used in prenatal care to determine zygosity and guide the administration of Rh immune globulin in pregnant women to prevent hemolytic disease of the fetus and newborn. In donor testing, RBC genotyping is used for resolving ABO/D discrepancies for better donor retention or for identifying donors negative for high-prevalence antigens to increase blood availability and compatibility for patients requiring rare blood. RBC genotyping is helpful to immunohematology reference laboratory staff performing complex antibody workups and is recommended for determining the antigen profiles of patients and prospective donors for accurate matching for C, E, and K in multiply transfused patients. Such testing is also used to determine patients or donors with variant alleles in the Rh blood group system. Information from this testing aides in complex antibody identification as well as sourcing rare allele-matched RBC units. While RBC genotyping is useful in transfusion medicine, there are limitations to its implementation in transfusion services, including test availability, turn-around time, and cost.

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Genotyping and the Future of Transfusion in Sickle Cell Disease

Cited by 2 publications

References 63 publications

RH genotypes and red cell alloimmunization rates in chronically transfused patients with sickle cell disease: A multisite study in the USA

RH genotypes and red cell alloimmunization rates in chronically transfused patients with sickle cell disease: A multisite study in the USA

When and why is red blood cell genotyping applicable in transfusion medicine: a systematic review of the literature

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