Despite the fact that most hemoglobin (Hb) variants are clinically and hematologically silent, they can interact with thalassemias, which could sometimes give rise to complicated routine thalassemia diagnostics. Hb G-Siriraj [β7(A4)Glu→Lys; : c.22G>A] alone is a benign condition, but its coinheritance with α-thalassemia (α-thal) may lead to misdiagnosis. We describe the case of a Chinese woman with an elevated Hb A level who was assumed to carry heterozygous β-thalassemia (β-thal), but was later shown to be a double heterozygote for Hb G-Siriraj and Hb H disease. This study for the first time described hematological characteristics of a patient with a double heterozygosity for Hb G-Siriraj and Hb H disease. It is of great significance for technicians and clinicians to expand their knowledge as well as to help guide clinical diagnosis, population screening and genetic counseling.
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Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.
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Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, People's Republic of China.
Objective: To investigate the molecular diagnosis of hemoglobin variants in Z region by Capillary electrophoresis in Central Guangxi, Southern China, and analyze their distribution and phenotypic characteristics, to provide a reference for clinical consultation and prenatal diagnosis for couples.
Methods: A total of 23,709 subjects were collected for blood routine analysis, hemoglobin analysis, and common α- and β-globin gene loci in Chinese population. The hemoglobin electrophoresis components were divided into Zone 1-Zone 15 (Z1-Z15) by Capillary zone electrophoresis (CE).
A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; : c.22G>A] and Hb H Disease.
Hemoglobin
November 2022
The First Clinical Medical College, Guangdong Medical University, Zhanjiang, Guangdong, People's Republic of China.
Despite the fact that most hemoglobin (Hb) variants are clinically and hematologically silent, they can interact with thalassemias, which could sometimes give rise to complicated routine thalassemia diagnostics. Hb G-Siriraj [β7(A4)Glu→Lys; : c.22G>A] alone is a benign condition, but its coinheritance with α-thalassemia (α-thal) may lead to misdiagnosis.
View Article and Find Full Text PDFA Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (: c.151A>T) mutation ].
Hemoglobin
July 2022
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, People's Republic of China.
β-Thalassemia (β-thal) is caused by mutations on the β-globin genes, causing reduced (β) or absent (β) synthesis of the β chains of hemoglobin (Hb). In this report, a 28-year-old male patient with anemia and jaundice, was diagnosed with triple-heterozygous β-thal [an IVS-II-654 (C>T) mutation, a Hb Zürich-Langstrasse (: c.151A>T) mutation and a Hb G-Siriraj (: c.
View Article and Find Full Text PDF[Hematologic Phenotype and Genotype Analysis of Patients with Hemoglobin Variants].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
August 2021
Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China E-mail:
Objective: To study the hematologic and molecular features of 14 patients with hemoglobin (Hb) variants, so as to provide reference data for its laboratory screening.
Methods: A total of 1 029 samples were screened by high performance liquid chromatography (HPLC) on the Bio-Rad VariantⅡHPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect common mutation of α and β globin gene in Chinese.
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