Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.

Meznarich, Jessica A; Rets, Anton; Agarwal, Archana M; Christensen, Robert D; Reading, N Scott; Kuypers, Frans A; Prchal, Josef T

Meznarich, Jessica A; Rets, Anton; Agarwal, Archana M; Christensen, Robert D; Reading, N Scott; Kuypers, Frans A; Prchal, Josef T.

Afiliação

Meznarich JA; Division of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Rets A; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, Utah, USA.
Agarwal AM; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
Christensen RD; ARUP Laboratories, Salt Lake City, Utah, USA.
Reading NS; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
Kuypers FA; ARUP Laboratories, Salt Lake City, Utah, USA.
Prchal JT; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, Utah, USA.

Am J Hematol ; 96(12): E448-E450, 2021 12 01.

Article em En | MEDLINE | ID: mdl-34553403

Assuntos

Anemia/genética; Saturação de Oxigênio; Globinas beta/genética; Anemia/metabolismo; Criança; Feminino; Humanos; Polimorfismo de Nucleotídeo Único; Globinas beta/metabolismo

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Globinas beta / Saturação de Oxigênio / Anemia Limite: Child / Female / Humans Idioma: En Revista: Am J Hematol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google