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

Elena Benzoni, Valentina Giannone, Laura Michetti, Manuela Seia, Laura Cavalleri, Cristina Curcio

Research output: Contribution to journalArticlepeer-review

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%).

Original languageEnglish
Pages (from-to)314-316
Number of pages3
JournalHemoglobin
Volume41
Issue number4-6
DOIs
Publication statusPublished - Nov 2 2017

Keywords

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

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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