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Efficient and correction of hemoglobin Constant Spring mutation by prime editing in human hematopoietic cells.
Mol Ther Nucleic Acids
December 2024
Cyrus Tang Medical Institute, National Clinical Research Center for Hematologic Diseases, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou, Jiangsu 215123, China.
Article Synopsis
- - Hemoglobin Constant Spring (Hb CS) is a significant mutation linked to α-thalassemia caused by an anti-termination mutation in the α2-globin gene stop codon.
- - A prime editing strategy was developed, demonstrating a successful introduction of Hb CS mutations in human cell lines (averaging 32% efficiency) and primary hematopoietic stem and progenitor cells (HSPCs) from healthy donors (averaging 27% efficiency).
- - The prime editing process also corrected the Hb CS mutation to its normal form in HSPCs from patients with hemoglobin H Constant Spring, suggesting its potential as a therapeutic approach for treating this condition.
Impact of HbE mutation on the clinical severity of HbH disease: A multicentre study from Thailand.
Br J Haematol
October 2024
Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Haemoglobin (Hb) H disease and HbH disease with co-inherited HbE mutation are the most prevalent forms of α-thalassaemia in Southeast Asia. Data were limited when comparing clinical phenotypes between these two patient groups. We conducted a Thai multicentre study and enrolled 588 patients [median (IQR) age 13.
View Article and Find Full Text PDFErythropoiesis and Gene Expression Analysis in Erythroid Progenitor Cells Derived from Patients with Hemoglobin H/Constant Spring Disease.
Int J Mol Sci
October 2024
Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Hemoglobin H/Constant Spring (Hb H/CS) disease represents a form of non-deletional Hb H disease characterized by chronic hemolytic anemia that ranges from moderate to severe and may lead to transfusion-dependent thalassemia. To study the underlying mechanisms of this disease, we conducted an analysis of erythropoiesis and gene expression in erythroid progenitor cells derived from CD34+ hematopoietic stem/progenitor cells from patients with Hb H/CS disease and normal controls. Twelve patients with Hb H/CS disease and five normal controls were enrolled.
View Article and Find Full Text PDFHemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or :C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.
Hemoglobin
July 2024
Department of Hematology/Oncology, Hemoglobinopathy Reference Laboratory, UCSF Benioff Children's Hospital, Oakland, CA, USA.
We report a novel mutation on α2-globin gene leading to an elongated α-chain. This novel frameshift mutation was detected in a 13-year-old boy from Balkh province, Afghanistan. DNA analysis identified an insertion of thymine (T) at codon 132 [:c.
View Article and Find Full Text PDFDetection of Hemoglobin Constant Spring: A Comparison of Capillary Electrophoresis Versus High-Performance Liquid Chromatography.
Cureus
August 2024
Department of Pathology and Medical Laboratory, Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu, MYS.
Article Synopsis
- In Malaysia, Hemoglobin Constant Spring (Hb CS) is the leading non-deletional α-thalassemia caused by a specific mutation in the α2-globin gene, with detection methods including capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC).
- This study aimed to compare the effectiveness of CE and HPLC in accurately detecting Hb CS through a study involving secondary school students' blood samples and subsequent molecular confirmation.
- Results showed that CE outperformed HPLC in identifying Hb CS cases, with a significant correlation between their detection methods, emphasizing CE's reliability for clinical use.
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