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

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Bibliographic Details
Published in:American journal of hematology 2021-12, Vol.96 (12), p.E448-E450
Main Authors: Meznarich, Jessica A., Rets, Anton, Agarwal, Archana M., Christensen, Robert D., Reading, N. Scott, Kuypers, Frans A., Prchal, Josef T.
Format: Article
Language:English
Subjects:
Anemia - genetics
Anemia - metabolism
beta-Globins - genetics
beta-Globins - metabolism
Child
Female
Hemoglobin
Humans
Oxygen
Oxygen Saturation
Polymorphism, Single Nucleotide
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ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.26356