Intracellular uptake of adenosine is essential for optimal erythroid commitment and differentiation of hematopoietic progenitor cells. The role of adenosine signaling is well documented in the regulation of blood flow, cell proliferation, apoptosis, and stem cell regeneration. However, the role of adenosine signaling in hematopoiesis remains unclear.
View Article and Find Full Text PDFBackground: An antibody directed against a high-prevalence red blood cell (RBC) antigen was detected in a 67-year-old female patient of North African ancestry with a history of a single pregnancy and blood transfusion. So far, the specificity of the proband's alloantibody remained unknown in our immunohematology reference laboratory.
Study Design And Methods: Whole-exome sequencing (WES) was performed on the proband's DNA.
Blood phenotypes are defined by the presence or absence of specific blood group antigens at the red blood cell (RBC) surface, due to genetic polymorphisms among individuals. The recent development of genomic and proteomic approaches enabled the characterization of several enigmatic antigens. The choline transporter-like protein CTL2 encoded by the SLC44A2 gene plays an important role in platelet aggregation and neutrophil activation.
View Article and Find Full Text PDFTo determine the existence of guidelines regarding the appropriate clinical use of blood and blood components, transfusion requests, and blood issuing/reception documents and procedures. The different bedside transfusion organizations/processes and hemovigilance are also analyzed. The ultimate objective is to identify safe potential options in order to improve blood safety at the lowest cost.
View Article and Find Full Text PDFHypoxia-mediated red blood cell (RBC) sickling is central to the pathophysiology of sickle cell disease (SCD). The signalling nucleoside adenosine is thought to play a significant role in this process. This study investigated expression of the erythrocyte type 1 equilibrative nucleoside transporter (ENT1), a key regulator of plasma adenosine, in adult patients with SCD and carriers of sickle cell trait (SCT).
View Article and Find Full Text PDFVox Sang
November 2022
Background And Objectives: Under the ISBT, the Working Party (WP) for Red Cell Immunogenetics and Blood Group Terminology is charged with ratifying blood group systems, antigens and alleles. This report presents the outcomes from four WP business meetings, one located in Basel in 2019 and three held as virtual meetings during the COVID-19 pandemic in 2020 and 2021.
Materials And Methods: As in previous meetings, matters pertaining to blood group antigen nomenclature were discussed.
Background And Objectives: Non-invasive assays for predicting foetal blood group status in pregnancy serve as valuable clinical tools in the management of pregnancies at risk of detrimental consequences due to blood group antigen incompatibility. To secure clinical applicability, assays for non-invasive prenatal testing of foetal blood groups need to follow strict rules for validation and quality assurance. Here, we present a multi-national position paper with specific recommendations for validation and quality assurance for such assays and discuss their risk classification according to EU regulations.
View Article and Find Full Text PDFTransfus Apher Sci
August 2021
Background: The correct determination of D antigen could help to avoid alloimmunization in pregnant women and patients receiving blood transfusions. However, there are limitations in the identification of D variants as the partial and weak D phenotypes make the determination of D antigen a great challenge in the transfusion routine.'
Study Design And Methods: The molecular characterization of D variants was performed on blood donors from southeastern Brazil with atypical D typing.
Myeloproliferative neoplasms (MPNs) are a group of disorders characterized by clonal expansion of abnormal hematopoietic stem cells leading to hyperproliferation of one or more myeloid lineages. The main complications in MPNs are high risk of thrombosis and progression to myelofibrosis and leukemia. MPN patients with high risk scores are treated by hydroxyurea (HU), interferon-α, or ruxolitinib, a tyrosine kinase inhibitor.
View Article and Find Full Text PDFGlycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency disorders. Here, we reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype.
View Article and Find Full Text PDFThe tight regulation of intracellular nucleotides is critical for the self-renewal and lineage specification of hematopoietic stem cells (HSCs). Nucleosides are major metabolite precursors for nucleotide biosynthesis and their availability in HSCs is dependent on their transport through specific membrane transporters. However, the role of nucleoside transporters in the differentiation of HSCs to the erythroid lineage and in red cell biology remains to be fully defined.
View Article and Find Full Text PDFThe Cromer blood group system consists of 19 antigens (16 of high prevalence and 3 of low prevalence). This study describes the identification and characterization of a new Cromer high-prevalence antigen, named CORS. The CORS-negative proband carries a c.
View Article and Find Full Text PDFBackground: X-linked chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the CYBB gene (located on Xp21.1). Patients with large deletions on chromosome Xp21.
View Article and Find Full Text PDFBackground: RHCE*ceEK is a rare RH allele mostly encountered in people of African descent. This allele is defined by four single nucleotide substitutions: c.48G>C, c.
View Article and Find Full Text PDFThe rare PEL-negative phenotype is one of the last blood groups with an unknown genetic basis. By combining whole-exome sequencing and comparative global proteomic investigations, we found a large deletion in the ABCC4/MRP4 gene encoding an ATP-binding cassette (ABC) transporter in PEL-negative individuals. The loss of PEL expression on ABCC4-CRISPR-Cas9 K562 cells and its overexpression in ABCC4-transfected cells provided evidence that ABCC4 is the gene underlying the PEL blood group antigen.
View Article and Find Full Text PDFA workshop on the clinical significance of red blood cell alloantibodies, organized by the Executive Committee of the Working Party on Immunohaematology of the International Society of Blood Transfusion (ISBT), took place in Dubai, United Arab Emirates, on 9 September 2016, in conjunction with the 34th International Congress of the ISBT. This event was funded by the ISBT Academy, founded in 2011, to support educational and knowledge activities. This report is a summary of that meeting.
View Article and Find Full Text PDFBackground: Mt (MNS14) is a low-prevalence antigen of the MNS system. A few cases of hemolytic disease of the fetus and newborn caused by anti-Mt have been reported in the literature, but up to now this antibody has never been associated with a hemolytic transfusion reaction (HTR).
Case Report: A 38-year-old male with sickle cell disease undergoing exchange transfusion presented with shivering, nausea, dyspnea, and pain in the lower limbs.