Article
Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham).
Pediatric blood & cancer - 1 Jan 2023
Gorfinkel Lev, Wachter Franziska, Luo Hong-Yuan, Hansbury Eileen, Williams David A, Agarwal Archana, Chui David H K, Cantor Alan B
Abstract excerpt
Unstable gamma globin variants can cause transient neonatal hemolytic anemia. We have identified a novel variant in a newborn who presented with jaundice and anemia requiring phototherapy and red blood cell transfusion. The patient was found to be heterozygous for the mutation HGB2:c.290T>C, p.Leu97Pro, which we have termed hemoglobin (Hb) Wareham. This substitution is expected to generate an unstable hemoglobin...
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