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Molecular Characterization of δβ Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFGene therapy for sickle cell disease: recent advances, clinical trials and future directions.
Cytotherapy
December 2024
Molecular and Clinical Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. Current treatments have variable efficacy and require lifelong adherence. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor availability limits its widespread applicability.
View Article and Find Full Text PDF[Clinical characteristics of cytokine release syndrome after haploidentical hematopoietic stem cell transplantation for thalassemia major].
Zhongguo Dang Dai Er Ke Za Zhi
December 2024
Department of Hematology and Oncology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518000, China.
Objectives: To investigate the clinical characteristics of cytokine release syndrome (CRS) in children with thalassemia major (TM) after haploidentical hematopoietic stem cell transplantation (haplo-HSCT) and their prognosis.
Methods: A retrospective analysis was performed for the clinical data of 280 children with TM who underwent haplo-HSCT in the Department of Hematology and Oncology, Shenzhen Children's Hospital, from January 2019 to December 2021. According to the CRS criteria, they were divided into two groups: CRS grade <3 (260 children) and CRS grade ≥3 (20 children).
Cardiovascular Effects of Splenomegaly and Splenectomy in Beta-Thalassemia Major.
Cureus
November 2024
Medicine, Peshawar Medical College, Peshawar, PAK.
Background Beta-thalassemia major is a genetic blood disease complicated by splenomegaly, and splenectomy is a standard therapy for this medical condition. Although splenectomy results not only in the improvement of the hematological status, the long-term consequences to the cardiovascular system are still questionable. Objective The aim of the study was to assess and compare the cardiovascular impact of splenomegaly and splenectomy in patients with beta-thalassemia major.
View Article and Find Full Text PDFA Variable Clinical Presentation of Hemoglobin City of Hope.
Clin Genet
December 2024
Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Hemoglobin City of Hope (Hb-COH), NC_000011.9(NM_000518.5):c.
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