{"title":"Rare Hemoglobin Variant Hb Handsworth (HBA1:c.55 G>C): Leads to False Positive Diagnosis of Hb S.","authors":"Chengxin Wang, Qingfu Li, Weidong Huang, Bingxin Shao","doi":"10.7754/Clin.Lab.2024.241220","DOIUrl":null,"url":null,"abstract":"<p><p>Hemoglobin Handsworth (HBA1: c.55 G>C) is a structural hemoglobin variant. This study examined the molecular and genetic characteristics of a proband and four family members using complete blood count (CBC), capillary electrophoresis (CE), PCR, and direct sequencing. In the capillary electrophoresis, the proband, father, and son all displayed an abnormal band for HbS. Direct sequencing revealed a heterozygous mutation at CD18 (GGC>CGC) in the HBA1 gene, confirming the presence of hemoglobin Hb Handsworth. It is important to note that individuals carrying only Hb Handsworth did not exhibit any abnormalities in the CBC, suggesting that Hb Handsworth is a non-pathological variation. However, the CE system cannot differentiate it from HbS, which can lead to misdiagnosis; thus, DNA sequencing is necessary for an accurate diagnosis.</p>","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 6","pages":""},"PeriodicalIF":0.7000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2024.241220","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Hemoglobin Handsworth (HBA1: c.55 G>C) is a structural hemoglobin variant. This study examined the molecular and genetic characteristics of a proband and four family members using complete blood count (CBC), capillary electrophoresis (CE), PCR, and direct sequencing. In the capillary electrophoresis, the proband, father, and son all displayed an abnormal band for HbS. Direct sequencing revealed a heterozygous mutation at CD18 (GGC>CGC) in the HBA1 gene, confirming the presence of hemoglobin Hb Handsworth. It is important to note that individuals carrying only Hb Handsworth did not exhibit any abnormalities in the CBC, suggesting that Hb Handsworth is a non-pathological variation. However, the CE system cannot differentiate it from HbS, which can lead to misdiagnosis; thus, DNA sequencing is necessary for an accurate diagnosis.
期刊介绍：
Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.
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