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 language | English |
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Pages (from-to) | 314-316 |
Number of pages | 3 |
Journal | Hemoglobin |
Volume | 41 |
Issue number | 4-6 |
DOIs | |
Publication status | Published - 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