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Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Hemoglobin
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, People's Republic of China.
This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.
View Article and Find Full Text PDFCoexisting Thalassemia, Immune Thrombocytopenic Purpura, and Multiple Myeloma With Osteopenia: Complex Hematologic Case in an Adult Asian Male Patient.
Cureus
December 2024
Internal Medicine, Larkin Community Hospital, South Miami, USA.
We report a rare case of a 45-year-old Asian male patient with concurrent multiple myeloma (MM), immune thrombocytopenic purpura (ITP), and thalassemia trait, presenting with severe thrombocytopenia, back pain, and bleeding manifestations. The diagnosis was established through a combination of laboratory findings, imaging, and bone marrow biopsy, revealing 90% plasma cell involvement and KRAS/BRCA2 mutations. Management focused on controlling ITP with corticosteroids, rituximab, and platelet transfusions while addressing immunosuppression risks.
View Article and Find Full Text PDFReal-world experience with iron chelation therapy in transfusion-dependent thalassemia: impact of the oral chelators' era.
Ann Hematol
December 2024
Division of Hematology/Oncology, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.
Iron overload is a common complication in patients with transfusion-dependent-thalassemia that can lead to end-organ damage. Management of iron overload has considerably evolved since the early 2000s with the approval of oral iron chelators and widespread use of MRI monitoring. We conducted a retrospective cohort study of 144 patients with transfusion-dependent-thalassemia treated at a single center in the US and followed since initiation of regular transfusion therapy.
View Article and Find Full Text PDFLuspatercept: a treatment for ineffective erythropoiesis in thalassemia.
Hematology Am Soc Hematol Educ Program
December 2024
Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Patients with β-thalassemia continue to have several unmet needs. In non-transfusion-dependent patients, untreated ineffective erythropoiesis and anemia have been associated with a variety of clinical sequelae, with no treatment currently available beyond supportive transfusions. In transfusion-dependent forms, lifelong transfusion and iron chelation therapy are associated with considerable clinical, psychological, and economic burden on the patient and health care system.
View Article and Find Full Text PDFIdentifying thresholds for meaningful improvements in NTDT-PRO scores to support conclusions about treatment benefit in clinical studies of patients with non-transfusion-dependent beta-thalassaemia: analysis of pooled data from a phase 2, double-blind, placebo-controlled, randomised trial.
BMJ Open
November 2024
Fondazione IRCCS Ca' Granda Policlinico Hospital, University of Milan, Milan, Italy.
Objectives: To estimate thresholds for defining meaningful within-patient improvement from baseline to weeks 13-24 and interpreting meaningfulness of between-group difference for the non-transfusion-dependent beta-thalassaemia patient-reported outcome (NTDT-PRO) tiredness/weakness (T/W) and shortness of breath (SoB) scores. A secondary objective was to determine the symptom severity threshold for the NTDT-PRO T/W domain to identify patients with symptomatic T/W.
Design: Pooled blinded data from the phase 2, double-blind, placebo-controlled, randomised BEYOND trial in NTDT (NCT03342404) were used.
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