Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins

Abstract

Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the β-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia. Hematological data suggested severe hemolytic anemia. Sequencing of the β-globin gene revealed the mutation HBB: c.278A>G at codon 92 in a heterozygous state, reported as Hb Mozhaisk in the HbVar database. Other family members did not have Hb Mozhaisk, thus, this variant is due to a de novo mutation. Because of the rarity of this globin variant, we believe it is important to report similar cases, to have a more complete phenotype description of the pathology and define an adequate reproductive risk for couples, considering the dominant inheritance pattern (hence an inheritance risk of 50.0%).

Keywords:

• β-Globin variant
• genetic counseling
• Hb Mozhaisk
• hemolytic anemia
• unstable hemoglobin (Hb)

Acknowledgments

The authors would like to thank Gigliucci Valentina (School of Pharmacy and Pharmaceutical Sciences, and Trinity College Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland) for proofreading and editing the language of this case report. The authors would like to acknowledge Fondazione G. e D. De Marchi Onlus, Milan, Italy for supporting this study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.