Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A\textgreaterG] as a De Novo Mutation in a Child of Mixed Ethnic Origins. Benzoni, E., Elena Benzoni, Valentina Giannone, Giannone, V., Michetti, L., Seia, M., Cavalleri, L., Curcio, C., & Curcio, C. Hemoglobin, 41:314–316, November, 2017. MAG ID: 2783848091doi abstract bibtex 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\textgreaterG 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%).
@article{benzoni_hb_2017,
title = {Hb {Mozhaisk} [β92({F8}){His}→{Arg}; {HBB}: c.{278A}{\textgreater}{G}] as a {De} {Novo} {Mutation} in a {Child} of {Mixed} {Ethnic} {Origins}.},
volume = {41},
doi = {10.1080/03630269.2017.1412983},
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{\textgreater}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\%).},
journal = {Hemoglobin},
author = {Benzoni, Elena and {Elena Benzoni} and {Valentina Giannone} and Giannone, Valentina and Michetti, Laura and Seia, Manuela and Cavalleri, Laura and Curcio, Cristina and Curcio, Cristina},
month = nov,
year = {2017},
doi = {10.1080/03630269.2017.1412983},
note = {MAG ID: 2783848091},
pages = {314--316},
}
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