Thalassemia major phenotype caused by HB Zürich-Albisrieden [&#945;2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child.

Pedroso, Gisele A; Kimura, Elza M; Santos, Magnun N N; Albuquerque, Dulcinéia M; Malimpensa, Danaê; Jorge, Susan E; Verissimo, Monica P A; Costa, Fernando F; Sonati, Maria F

Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child.

Pedroso, Gisele A; Kimura, Elza M; Santos, Magnun N N; Albuquerque, Dulcinéia M; Malimpensa, Danaê; Jorge, Susan E; Verissimo, Monica P A; Costa, Fernando F; Sonati, Maria F.

Afiliação

Pedroso GA; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Kimura EM; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Santos MNN; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Albuquerque DM; Hematology and Hemotherapy Center, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Malimpensa D; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Jorge SE; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Verissimo MPA; Boldrini Children's Center, Campinas, São Paulo, Brazil.
Costa FF; Hematology and Hemotherapy Center, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.
Sonati MF; Hemoglobinopathies Laboratory, Department of Clinical Pathology, School of Medical Sciences, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil.

Pediatr Blood Cancer ; 65(12): e27413, 2018 12.

Article em En | MEDLINE | ID: mdl-30151892

Assuntos

Hemoglobinas Anormais/genética; Homozigoto; Talassemia alfa/genética; Talassemia beta/genética; Brasil; Genótipo; Humanos; Lactente; Masculino; Mutação; Linhagem; Fenótipo

Palavras-chave

Hb Zürich-Albisrieden; thalassemia major phenotype; α-thalassemia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia beta / Talassemia alfa / Homozigoto Limite: Humans / Infant / Male País como assunto: America do sul / Brasil Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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