Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C,p.Leu97Pro (hemoglobin Wareham) |
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| Authors: | Lev Gorfinkel Franziska Wachter Hong-yuan Luo Eileen Hansbury David A. Williams Archana Agarwal David H. K. Chui Alan B. Cantor |
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| Affiliation: | 1. Division of Pediatric Hematology-Oncology, Boston Children's Hospital/Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA;2. Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, Massachusetts, USA;3. Department of Pathology, University of Utah Health Sciences, Salt Lake City, Utah, USA |
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| 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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| Keywords: | gamma globin hemoglobin Debrousse neonatal hemolytic anemia pyknocytes unstable hemoglobinopathy |
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