A5005454308- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Blood disorders and treatments
- Hemoglobinopathies and Related Disorders
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Herpesvirus Infections and Treatments
- Genetic Syndromes and Imprinting
- Renal Transplantation Outcomes and Treatments
- Cancer-related gene regulation
- Urologic and reproductive health conditions
- Phagocytosis and Immune Regulation
- Blood properties and coagulation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Blood donation and transfusion practices
- Prenatal Screening and Diagnostics
- Complement system in diseases
- Glycosylation and Glycoproteins Research
- Monoclonal and Polyclonal Antibodies Research
- Bacteriophages and microbial interactions
- Transplantation: Methods and Outcomes
New York Blood Center
2021-2024
Grifols (United States)
2015-2021
Blood transfusions save millions of lives worldwide each year, yet formation antibodies against non-self antigens remains a significant problem, particularly in frequently transfused patients. We designed and tested the Universal Donor Typing (UBDT_PC1) array for automated high-throughput simultaneous typing human erythroid, platelet, leukocyte, neutrophil (HEA, HPA, HLA, HNA, respectively) to support selection blood products matched beyond ABO/Rh. samples from 6946 donors European, African,...
Abstract Background Conventional sequencing uses gene‐specific primers to determine the location of RH variants and permits a qualitative assessment zygosity. Whole‐genome whole‐exome genetic enable quantitative Nonspecific ‐consensus detect sequencing‐read ratios quantify their copy number. Study Design Methods Two hundred seventy eight samples with diverse genotypes were analyzed by next‐generation ‐ consensus primers. Custom‐developed data analysis software was used individual infer...
Fetal RHD screening programs that aim to reduce unnecessary antenatal anti-D prophylaxis are being introduced into clinical practice. Strategies manage women serologically typed as Rhesus D negative who have maternal variants needed. This study describes allelic detected in nonselected and alloimmunised obstetric populations explores a mathematical approach identify these variants.Fetal status was defined by testing cell-free fetal DNA plasma. Women at risk of an variant were identified...
BACKGROUND Only a few genetic variants have been reported in regulatory elements of blood group genes. Most them affect GATA motifs, binding sites for the GATA‐1 transcription factor. STUDY DESIGN AND METHODS Samples from two patients and one donor with unusual or discrepant serology ABO, RhD, RhCE antigens were analyzed by DNA sequencing. Analyzed regions included coding sequence portions elements. The effect some on gene expression was evaluated reporter assays. RESULTS Three new alleles...
Background Variant alleles that do not produce RhCE antigens are rare. Consequently, they pose a challenge to transfusion when found in alloimmunized patients and make blood units valuable donors. Study Design Methods Five index cases their relatives were studied by both serologic molecular techniques. Genomic DNA was subjected microarray genotyping, sequencing, exon scanning, and/or copy number determination assays identify the RHCE allele(s) responsible for D+ C− c− E– e− (D– –) phenotype....
The Lu(b) antigen is expressed on red blood cells (RBCs) of the majority individuals in all populations. Its absence transfused patients may lead to alloantibody production and mild-to-moderate transfusion reactions, pregnancies mild hemolytic disease fetus newborn. This report describes results discrepancy resolution between apparent LU*A/LU*B or LU*B/LU*B genotypes Lu(b-) Lu(b+ weak) phenotypes one Asian 10 Caucasian donors.Whole samples were analyzed by molecular methods resolve...
BACKGROUND The introduction of molecular methods into routine blood typing is prompting the identification new group alleles. Discrepancies between results genotyping and serology or chance events uncovered during prompted additional investigations, which revealed six RHCE variant STUDY DESIGN AND METHODS Samples from eight donors, two patients (one prenatal), a patient's relative, all diverse racial origin, were analyzed by standard methods, targeted arrays, DNA sequencing, allele‐specific...
BACKGROUND The c.1‐67C variant polymorphism in a GATA motif of the FY promoter is known to result erythroid‐specific silencing, that is, Fy(a−) and Fy(b−) phenotypes. A Caucasian donor presented with very rare Fy(a−b−) phenotype was further investigated. STUDY DESIGN AND METHODS Genomic DNA analyzed by sequencing identify cause phenotype. Samples were collected from some his relatives establish correlation between serology genotyping results. Red blood cells gel column agglutination flow...
Unusual and discrepant ABO phenotypes are often due to genetic variants that lead altered levels or activity of transferases consequently expression antigens. This report describes eight alterations found in 15 cases with reduced undetectable Forward reverse grouping was performed by standard gel tube methods. Adsorption-heat elution saliva testing for H A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood PCR-amplified cover entire coding...
Additional Supporting Information may be found in the online version of this article at publisher's website. Fig. S1. Gel electrophoresis RHD Exon 4 amplification. S2. Sanger sequencing chromatograms showing gene sequence from PCR amplicon (Fig. S1) for a wild-type control (A) and samples antenatal patient S1 (B) blood donor S2 (C), which were unresolved by SNP microarray. The independent novel variants detected RHD*492G RHD*510_511insG Please note: publisher is not responsible content or...
Abstract Background The Er blood group system was recently shown to be defined by PIEZO1 . consists of high prevalence antigens a , Er3, ERSA, and ERAMA; low antigen b /Er are antithetical with Er(a−b+) the ER*B allele [c.7180G>A p.(Gly2394Ser)]. A nonsense variant c.5289C>G p.(Tyr1763*) is associated predicted null phenotype, missense c.7174G>A p.(Glu2392Lys) in close proximity p.2394 causes loss both expression. Study Design Methods We investigated four Er(a−) individuals who...
Abstract Molecular genotyping platforms provide a quick, high-throughput method for identifying red blood cell units patients on extended phenotype-matching protocols, such as those with sickle disease or thalassemia. Most of the antigen prevalence data reported are non-Hispanic populations. Therefore, this study sought to determine phenotype in single center’s Hispanic population and compare results previously rates donor We performed retrospective review all serologic molecular typing from...
Abstract Background The most common large‐deletion RHD allele ( RHD*01N.01 ) includes the entire coding sequence, intervening regions and untranslated regions. rest of alleles reported to‐date consist single‐exon deletions, such as RHD*01N.67 which exon 1. Materials Methods Samples from two donors with RhD‐negative serology yielded unclear or inconclusive results when subject to confirmatory testing on genotyping arrays. To determine their genotypes, genomic DNA was analyzed a combination...
Abstract Correct donor D typing is critical to prevent recipient alloimmunization. No method can detect all variants, and the immunogenicity of many variants unknown. Routine ABO serologic typings are performed in our laboratory by automated microplate testing. Until 2011, routine confirmation D– status first-time donors was manual tube indirect antiglobulin test (IAT); this replaced solid-phase testing including weak IAT. Selected investigated other methods. We describe four type 67...
The authors have disclosed no conflicts of interest. https://www.isbtweb.org/working-parties/red-cell-immunogenetics-and-blood-group-terminology. Accessed 10 April 2022. https://gnomad.broadinstitute.org/
New alleles are often discovered when targeted genotyping predicts antigen positive and serology shows negative, weak, or variable reactivity. Donor discrepancy resolution is important for correct labeling. We investigated five donor samples with RhCE between PreciseType HEA. Serologic testing was done by standard tube methods using Immucor Gamma-clone, Ortho BioClone, Quotient ALBAclone Bio-Rad Seraclone antisera. DNA isolated from white blood cells. RHCE BeadChip (Immucor) Sanger...