Objective: To evaluate the usefulness of DNA methods to provide a means to precisely genotypically match donor blood units for the antigen-negative type of 35 sickle cell disease patients.

Methods: Red blood cell units were investigated for ABO, D, C, c, E, e, K, Fy(a), Fy(b), Jk(a), Jk(b), S, s, Di(a) and RH variants by performing a molecular array (Human Erythrocyte Antigen BeadChip(TM), BioArray Solutions), polymerase chain reaction followed by restriction fragment length polymorphism analysis and sequencing of patient samples and donor units that had been serologically matched based on the ABO, Rh and K phenotypes and the presence of antibodies.

Results: Matches for 21 of 35 sickle cell disease patients presented discrepancies or mismatches for multiple antigens between the genotype profile and the antigen profile of their serologically-matched blood units. The main discrepancies or mismatches occurred in the RH, FY, JK and MNS systems. Eight Rh alloimmunized patients presented RHD and RHCE variants that had not been serologically identified. According to these results better matches were found for the patients with genotyped units and the patients benefited as shown by better in vivo red blood cell survival.

Conclusion: Molecular matching is superior to serological matching in sickle cell disease patients, decreasing the risk of transfusion reactions, especially delayed transfusion reactions to existing alloantibodies and preventing alloimmunization.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621633PMC
http://dx.doi.org/10.5581/1516-8484.20130012DOI Listing

Publication Analysis

Top Keywords

sickle cell
16
cell disease
16
red blood
12
disease patients
12
molecular matching
8
superior serological
8
serological matching
8
matching sickle
8
blood units
8
blood cell
8

Similar Publications

Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.

View Article and Find Full Text PDF

Purpose: The pain experience of patients with sickle cell disease (SCD) frequently consists of episodes of acute exacerbation. However, recent studies suggest that many patients who suffer from SCD have symptoms of chronic neuropathic pain. Additional research is needed to determine what role genotype plays in the patient's pain phenotype experience in SCD.

View Article and Find Full Text PDF

Pediatric Neurosonography: Comprehensive Review and Systematic Approach.

Can Assoc Radiol J

December 2024

Department of Diagnostic and Intervention Radiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Neurosonography (NSG) is pivotal for rapid, point-of-care neonatal brain assessment. This review elucidates the comprehensive applications of NSG in pediatric care, emphasizing its role in early diagnosis and management of pathologies affecting the pediatric head-such as scalp lesions, misshapen calvarium, ventricular distortions, and cerebrovascular abnormalities, and its specific role in conditions like hypoxic-ischaemic encephalopathy (HIE) across different neonatal gestational ages. We explore its diagnostic advantage in critical care settings, particularly for infants with stroke risk in sickle cell disease, ECMO-related complications, screening for therapeutic hypothermia, and routine neonatal intensive care unit monitoring.

View Article and Find Full Text PDF

Despite extensive research on the impact of stigma on the health-related quality of life (HRQoL) of people with sickle cell disease, gaps remain in understanding the mechanisms through which this association occurs. We investigated how stigma impacts HRQoL among people with sickle cell disease (SCD) through distress and the moderating role of social support in this association. Utilizing a cross-sectional design, we sampled 165 people with SCD in Nigeria, who completed relevant measures.

View Article and Find Full Text PDF

Gene therapy for sickle cell disease: recent advances, clinical trials and future directions.

Cytotherapy

December 2024

Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.

Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!