We report here the hematological and molecular features of a novel δ-globin chain variant found in a Southern Thai woman. Her complete blood count was as follows: red blood cell (RBC) count 5.90 × 10/L, hemoglobin concentration (Hb) 12.6 g/dL, packed cell volume (PCV) 0.41 L/L, mean corpuscular volume (MCV) 69.5 fL, mean corpuscular Hb (MCH) 21.4 pg, mean corpuscular Hb concentration (MCHC) 30.7 g/dL and RBC distribution width (RDW) 13.1%. The blood smear demonstrated microcytic hypochromic RBCs suggestive of thalassemia trait. Hemoglobin analysis identified Hb A + Hb A-Kiriwong (2.4%) and Hb F (0.1%) on high performance liquid chromatography (HPLC). To characterize the α-thalassemia (α-thal) genotype, common α-thal-1 and α-thal-2 alleles were characterized by multiplex gap-polymerase chain reaction (gap-PCR). The results revealed homozygous α-thal-2 (-α/-α) in this case. DNA sequencing showed the presence of a novel δ-globin gene mutation [δ77(EF1)His→Arg; HBD: c.233A>G] that we named Hb A-Kiriwong for the village from where the proband lived. In summary, the presence of microcytic hypochromic RBCs in this case was likely the result of the homozygous -α (rightward) deletion and was not affected by this Hb A variant.
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http://dx.doi.org/10.1080/03630269.2017.1345760 | DOI Listing |
Eur J Haematol
January 2025
Hematology, St. Paul's Hospital and The University of British Columbia, Vancouver, British Columbia, Canada.
Introduction: Iron overload (IOL) accumulates in myelodysplastic syndromes (MDS) from expanded erythropoiesis and transfusions. Somatic mutations (SM) are frequent in MDS and stratify patient risk. MDS treatments reversing or limiting transfusion dependence are limited.
View Article and Find Full Text PDFJ Exp Clin Cancer Res
January 2025
Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada.
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a second-line treatment with curative potential for leukemia patients. However, the prognosis of allo-HSCT patients with disease relapse or graft-versus-host disease (GvHD) is poor. CD4 or CD8 conventional T (Tconv) cells are critically involved in mediating anti-leukemic immune responses to prevent relapse and detrimental GvHD.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
Lancet
January 2025
Istituto Oncologico Veneto IOV-IRCCS, Padua, Italy.
Background: CheckMate 8HW prespecified dual primary endpoints, assessed in patients with centrally confirmed microsatellite instability-high or mismatch repair-deficient status: progression-free survival with nivolumab plus ipilimumab compared with chemotherapy as first-line therapy and progression-free survival with nivolumab plus ipilimumab compared with nivolumab alone, regardless of previous systemic treatment for metastatic disease. In our previous report, nivolumab plus ipilimumab showed superior progression-free survival versus chemotherapy in first-line microsatellite instability-high or mismatch repair-deficient metastatic colorectal cancer in the CheckMate 8HW trial. Here, we report results from the prespecified interim analysis for the other primary endpoint of progression-free survival for nivolumab plus ipilimumab versus nivolumab across all treatment lines.
View Article and Find Full Text PDFComput Methods Programs Biomed
January 2025
Computational Biomedicine Unit, Department of Medical Sciences, University of Torino, Via Santena 19, 10126, Torino, Italy.
Background And Objectives: Several computational pipelines for biomedical data have been proposed to stratify patients and to predict their prognosis through survival analysis. However, these analyses are usually performed independently, without integrating the information derived from each of them. Clustering of survival data is an underexplored problem, and current approaches are limited for biomedical applications, whose data are usually heterogeneous and multimodal, with poor scalability for high-dimensionality.
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