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Updated: Aug 25, 2025

Modeling Neonatal Intraventricular Hemorrhage Through Intraventricular Injection of Hemoglobin
Published on: August 25, 2022
Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin
Lev Gorfinkel1, Franziska Wachter1, Hong-Yuan Luo2
1Division of Pediatric Hematology-Oncology, Boston Children's Hospital/Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA.
Abstract:
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 with increased oxygen affinity based on the homologous mutation previously described in the beta globin gene, which is termed as Hb Debrousse. The patient fully recovered by 9 months of age as expected with the transition from fetal to adult hemoglobin.
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