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Case Reports
. 2023 Jan;70(1):e30067.
doi: 10.1002/pbc.30067. Epub 2022 Oct 17.

Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham)

Lev Gorfinkel  1 , Franziska Wachter  1 , Hong-Yuan Luo  2 , Eileen Hansbury  1 , David A Williams  1 , Archana Agarwal  3 , David H K Chui  2 , Alan B Cantor  1   4
Affiliations
Case Reports

Transient neonatal hemolytic anemia due to the novel gamma globin gene mutation HBG2:C.290T>C, p.Leu97Pro (hemoglobin Wareham)

Lev Gorfinkel et al. Pediatr Blood Cancer. 2023 Jan.

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.

Keywords: gamma globin; hemoglobin Debrousse; neonatal hemolytic anemia; pyknocytes; unstable hemoglobinopathy.

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References

REFERENCES

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