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Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing.
Yadav, Diksha D; Jamwal, Manu; Singh, Namrata; Sharma, Ritika; Das, Reena; Trehan, Amita; Bansal, Deepak; Chhabra, Sanjeev; Sharma, Prashant.
Afiliação
  • Yadav DD; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Jamwal M; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Singh N; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Sharma R; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Das R; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Trehan A; Department of Pediatric Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Bansal D; Department of Pediatric Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Chhabra S; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  • Sharma P; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Hemoglobin ; 45(5): 338-340, 2021 Sep.
Article em En | MEDLINE | ID: mdl-35144518
ABSTRACT
Hyperunstable hemoglobins (Hbs) are challenging to diagnose and may be missed on conventional hemolytic anemia work-up. Here, we report the case of a 2-year-old Indian boy with infancy-onset severe hemolytic anemia. Its etiology was revealed by targeted next-generation sequencing (NGS) to be the rare Hb Mizuho (HBB c.206T>C). This variant had been missed on the initial routine laboratory investigations (heat and isopropanol tests for unstable Hbs) owing to its hyperunstable nature.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Anemia Hemolítica Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Anemia Hemolítica Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article