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.
Jessica A MeznarichAnton RetsArchana M AgarwalRobert D ChristensenN Scott ReadingFrans A KuypersJosef T PrchalPublished in: American journal of hematology (2021)