Further Characterization of Hb Bronovo [&#945;103(G10)HisâLeu; <i>HBA2</i>: c.311A>T] and First Report of the Homozygous State.

Mehta, Nikita; Johnston, J Martin; Hein, Molly; Kipp, Benjamin R; Coon, Lea; Savedra, Michelle E; Hoyer, James D; He, Rong; Rangan, Aruna; Shi, Min; Oliveira, Jennifer L

Further Characterization of Hb Bronovo [α103(G10)HisâLeu; HBA2: c.311A>T] and First Report of the Homozygous State.

Mehta, Nikita; Johnston, J Martin; Hein, Molly; Kipp, Benjamin R; Coon, Lea; Savedra, Michelle E; Hoyer, James D; He, Rong; Rangan, Aruna; Shi, Min; Oliveira, Jennifer L.

Afiliação

Mehta N; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Johnston JM; Department of Pathology, Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Hein M; Division of Pediatric Hematology/Oncology, Renown Children's Hospital, Reno, NV, USA.
Kipp BR; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Coon L; Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.
Savedra ME; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Hoyer JD; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
He R; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Rangan A; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Shi M; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.
Oliveira JL; Department of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.

Hemoglobin ; 44(3): 174-178, 2020 May.

Article em En | MEDLINE | ID: mdl-32552204

Assuntos

Alelos; Hemoglobinas Anormais/genética; Homozigoto; Mutação; alfa-Globinas/genética; Talassemia alfa/diagnóstico; Talassemia alfa/genética; Substituição de Aminoácidos; Pré-Escolar; Mapeamento Cromossômico; Análise Mutacional de DNA; Feminino; Testes Genéticos; Heterozigoto; Humanos; Padrões de Herança; Masculino; Herança Materna; Linhagem

Palavras-chave

Hb Bronovo; microcytic anemia; thalassemia; α hemoglobin (Hb) stabilizing protein (AHSP); α-Globin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia alfa / Alelos / Alfa-Globinas / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Hemoglobin Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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