The ABO blood group system is important in forensic genetics, as well as transfusion medicine. Since the elucidation of the molecular basis of ABO gene regulation, nucleotides of variant alleles or suballeles have been analyzed by polymerase chain reaction (PCR)-based methods and sequencing. Ael (A-elute) is one of the subgroups of A in the ABO system. By analyzing the suballeles responsible for Ael phenotype by PCR-RFLP and PCR direct sequencing, we found seven types of Ael allele. The allele frequency of ABO*Ael in a Japanese population was calculated to be 0.0049.
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http://dx.doi.org/10.1016/s1344-6223(02)00113-x | DOI Listing |
Children (Basel)
November 2024
Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.
Background/objectives: The clinical characteristics and outcomes of hemolytic disease of the newborn (HDN) caused by irregular antibodies remain unclear. Herein, we analyzed the clinical features and prognosis of HDN.
Methods: Children admitted to our institution between June 2009 and December 2022 with a definite diagnosis of HDN were evaluated.
Front Immunol
January 2025
Blood Group Reference Laboratory, Dalian Blood Center, Dalian, China.
Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.
View Article and Find Full Text PDFAm J Clin Pathol
January 2025
Medical Laboratory Department, Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Awka, Nigeria.
Objectives: Transfusion-transmitted infections are a serious complication of blood transfusion. Devising a means of detecting at-risk blood donors may be beneficial in low- and middle-income countries such as Nigeria. We sought to determine the impact of ABO blood group on the prevalence of transfusion transmitted infections.
View Article and Find Full Text PDFAnn Hematol
January 2025
Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325035, China.
Background: Autoimmune hemolytic anemia (AIHA) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) is often refractory and relapsing, leading to increased mortality post-HSCT.
Methods: We retrospectively analyzed the cases of patients with transfusion-dependent β-thalassemia (TDT) who underwent allo-HSCT to study their clinical features, the occurrence of AIHA post-HSCT, and treatment response and to explore the possible pathogenesis of AIHA.
Result: A total of 113 patients were registered in the study, out of whom 14 developed AIHA following allo-HSCT, resulting in a cumulative incidence of 12.
J Thromb Haemost
December 2024
Thrombosis Research Group, Department of Clinical Medicine, UiT The Arctic University of North Norway, Tromsø,Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.
Background: Atrial fibrillation (AF) is a major risk factor for ischemic stroke. Whether prothrombotic single nucleotide polymorphisms (SNPs) impact stroke risk in AF is not well known.
Objectives: To investigate the joint effects of five prothrombotic SNPs and AF on ischemic stroke risk.
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