Xi-Gui Long, Xi He, Li-Hong Zheng, Liang Liang, Ting Qin, You-Qiong Li
{"title":"Hb A2-广西 [δ79（EF3）Asp→Asn，HBD：C.238G > A] 和 polyA + 70（HBD：C.*200G > A）：在一个中国家庭中发现两个新的δ-球蛋白基因突变。","authors":"Xi-Gui Long, Xi He, Li-Hong Zheng, Liang Liang, Ting Qin, You-Qiong Li","doi":"10.1080/03630269.2024.2390934","DOIUrl":null,"url":null,"abstract":"<p><p>We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A<sub>2</sub>, accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A<sub>2</sub> and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 (<i>HBD</i>:c.238G > A) and G > A at polyA + 70 (<i>HBD</i>:c.*200G > A) of the δ-globin gene. This variant was named Hb A<sub>2</sub>-Guangxi [δ79 (EF3) Asp→Asn, <i>HBD</i>:c.238G > A] after the geographic origin of the proband.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hb A<sub>2</sub>-Guangxi [δ79 (EF3) Asp→Asn, <i>HBD</i>: C.238G > A] and polyA + 70 (<i>HBD</i>: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.\",\"authors\":\"Xi-Gui Long, Xi He, Li-Hong Zheng, Liang Liang, Ting Qin, You-Qiong Li\",\"doi\":\"10.1080/03630269.2024.2390934\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A<sub>2</sub>, accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A<sub>2</sub> and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 (<i>HBD</i>:c.238G > A) and G > A at polyA + 70 (<i>HBD</i>:c.*200G > A) of the δ-globin gene. This variant was named Hb A<sub>2</sub>-Guangxi [δ79 (EF3) Asp→Asn, <i>HBD</i>:c.238G > A] after the geographic origin of the proband.</p>\",\"PeriodicalId\":12997,\"journal\":{\"name\":\"Hemoglobin\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-08-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hemoglobin\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/03630269.2024.2390934\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hemoglobin","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/03630269.2024.2390934","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Hb A2-Guangxi [δ79 (EF3) Asp→Asn, HBD: C.238G > A] and polyA + 70 (HBD: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.
We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A2, accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A2 and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 (HBD:c.238G > A) and G > A at polyA + 70 (HBD:c.*200G > A) of the δ-globin gene. This variant was named Hb A2-Guangxi [δ79 (EF3) Asp→Asn, HBD:c.238G > A] after the geographic origin of the proband.
期刊介绍：
Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view
The journal covers topics such as:
structure, function, genetics and evolution of hemoglobins
biochemical and biophysical properties of hemoglobin molecules
characterization of hemoglobin disorders (variants and thalassemias),
consequences and treatment of hemoglobin disorders
epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening)
modulating factors
methodology used for diagnosis of hemoglobin disorders
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