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[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong 529500, China.
Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.
Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.
The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
Hemoglobin
December 2024
Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, Guangxi Zhuang Autonomous Region, China.
In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies.
View Article and Find Full Text PDFHb Phnom Penh: clinical characteristics analysis and literature review.
Hematology
December 2024
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, People's Republic of China.
Objective: To summarize and analyze the clinical characteristics of the Hb Phnom Penh (:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders.
Methods: Peripheral blood samples were collected from patients, and hematological parameters, hemoglobin electrophoresis, and glycated hemoglobin chromatography were analyzed.
:c.96-2A > G mutation: report of 7 cases in China.
Hematology
December 2024
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, People's Republic of China.
Objective: To analyze the hematological phenotype and genotype of : c.96-2A > G carriers.
Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.
Identification of a novel 145 kb deletion (Guigang deletion, -) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing.
Hematology
December 2024
Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
Objective: To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).
Case Report: The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α-thalassemia carrier status (Hb Bart's 3.0%).
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