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.

Autor: Meznarich JA; Division of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, Utah, USA., Rets A; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Agarwal AM; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA., Christensen RD; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, Utah, USA.; Division of Neonatology, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Center for Iron and Heme Disorders, University of Utah, Salt Lake City, Utah, USA., Reading NS; Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Laboratories, Salt Lake City, Utah, USA.; Division of Hematology, Department of Medicine, University of Utah, Huntsman Cancer Institute, Salt Lake City, Utah, USA., Kuypers FA; Division of Hematology, Department of Pediatrics, University of California San Francisco, Oakland, California, USA., Prchal JT; Center for Iron and Heme Disorders, University of Utah, Salt Lake City, Utah, USA.; Division of Hematology, Department of Medicine, University of Utah, Huntsman Cancer Institute, Salt Lake City, Utah, USA.; Division of Hematology, Department of Medicine, George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah, USA.
Jazyk: angličtina
Zdroj: American journal of hematology [Am J Hematol] 2021 Dec 01; Vol. 96 (12), pp. E448-E450. Date of Electronic Publication: 2021 Sep 29.
DOI: 10.1002/ajh.26356
Databáze: MEDLINE