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Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Int J Lab Hematol
June 2024
Department of Haematogenetics, Indian Council of Medical Research-National Institute of Immunohaematology (ICMR-NIIH), Mumbai, India.
The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database.
View Article and Find Full Text PDFMisdiagnosis of β-Thalassemia Major Due to Chinese γ+(γδβ)-Thalassemia Combined with β-Thalassemia.
Hemoglobin
January 2024
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
δβ-thalassemia is a rare type of thalassemia characterized by increased Hb F levels, including mainly Chinese γ(γδβ)-thalassemia, Yunnanese γ(γδβ)-thalassemia, Cantonese γ(γδβ)-thalassemia in China. Due to the low rate of δβ-thalassemia carriers, there are few reports of δβ-thalassemia combined with β-thalassemia causing β-thalassemia major. Herein, we described the combination of Chinese γ(γδβ)-thalassemia and β-thalassemia leading to β-thalassemia major in a Chinese patient.
View Article and Find Full Text PDFIdentification of a rare [γ(γδβ)] -thalassemia using tandem mass spectrometry.
Proteomics
July 2024
Manipal Academy of Higher Education, Manipal, Karnataka, India.
Thalassemias are a group of inherited monogenic disorders characterized by defects in the synthesis of one or more of the globin chain subunits of the hemoglobin tetramer. Delta-beta (δβ-) thalassemia has large deletions in the β globin gene cluster involving δ- and β-globin genes, leading to absent or reduced synthesis of both δ- and β-globin chains. Here, we used direct globin-chain analysis using tandem mass spectrometry for the diagnosis of δβ-thalassemia.
View Article and Find Full Text PDFεγ-Thalassemia, a New Hemoglobinopathy Category.
Clin Chem
July 2023
Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Article Synopsis
- The study investigates a novel deletion in the β-globin gene cluster linked to a new hemoglobinopathy phenotype, termed ϵγ-thalassemia, found in two women and their newborn twins.
- Different laboratory techniques were employed to confirm the deletion, including capillary electrophoresis and DNA sequencing.
- The findings revealed a unique hemoglobin pattern, with increased levels of Hb A2 but no microcytosis or severe anemia, highlighting the need for improved genetic counseling regarding this newly identified condition.
Genotype-Phenotype Study of β-Thalassemia Patients in Sabah.
Hemoglobin
November 2022
Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Malaysia.
β-thalassemia is a serious public health problem in Sabah due to its high prevalence. This study aimed to investigate the effects of different types of β-globin gene mutations, coinheritance with α-globin gene mutations, I-γ, and rs368698783 polymorphisms on the β-thalassemia phenotypes in Sabahan patients. A total of 111 patients were included in this study.
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