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},
}
Downloads: 0
{"_id":"eij6FDfS9uCoAxAF6","bibbaseid":"benzoni-elenabenzoni-valentinagiannone-giannone-michetti-seia-cavalleri-curcio-etal-hbmozhaisk92f8hisarghbbc278atextgreatergasadenovomutationinachildofmixedethnicorigins-2017","author_short":["Benzoni, E.","Elena Benzoni","Valentina Giannone","Giannone, V.","Michetti, L.","Seia, M.","Cavalleri, L.","Curcio, C.","Curcio, C."],"bibdata":{"bibtype":"article","type":"article","title":"Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A\\textgreaterG] 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\\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%).","journal":"Hemoglobin","author":[{"propositions":[],"lastnames":["Benzoni"],"firstnames":["Elena"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Elena Benzoni"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Valentina Giannone"],"suffixes":[]},{"propositions":[],"lastnames":["Giannone"],"firstnames":["Valentina"],"suffixes":[]},{"propositions":[],"lastnames":["Michetti"],"firstnames":["Laura"],"suffixes":[]},{"propositions":[],"lastnames":["Seia"],"firstnames":["Manuela"],"suffixes":[]},{"propositions":[],"lastnames":["Cavalleri"],"firstnames":["Laura"],"suffixes":[]},{"propositions":[],"lastnames":["Curcio"],"firstnames":["Cristina"],"suffixes":[]},{"propositions":[],"lastnames":["Curcio"],"firstnames":["Cristina"],"suffixes":[]}],"month":"November","year":"2017","note":"MAG ID: 2783848091","pages":"314–316","bibtex":"@article{benzoni_hb_2017,\n\ttitle = {Hb {Mozhaisk} [β92({F8}){His}→{Arg}; {HBB}: c.{278A}{\\textgreater}{G}] as a {De} {Novo} {Mutation} in a {Child} of {Mixed} {Ethnic} {Origins}.},\n\tvolume = {41},\n\tdoi = {10.1080/03630269.2017.1412983},\n\tabstract = {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\\%).},\n\tjournal = {Hemoglobin},\n\tauthor = {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},\n\tmonth = nov,\n\tyear = {2017},\n\tdoi = {10.1080/03630269.2017.1412983},\n\tnote = {MAG ID: 2783848091},\n\tpages = {314--316},\n}\n\n\n\n","author_short":["Benzoni, E.","Elena Benzoni","Valentina Giannone","Giannone, V.","Michetti, L.","Seia, M.","Cavalleri, L.","Curcio, C.","Curcio, C."],"key":"benzoni_hb_2017","id":"benzoni_hb_2017","bibbaseid":"benzoni-elenabenzoni-valentinagiannone-giannone-michetti-seia-cavalleri-curcio-etal-hbmozhaisk92f8hisarghbbc278atextgreatergasadenovomutationinachildofmixedethnicorigins-2017","role":"author","urls":{},"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["mozhaisk","arg","hbb","278a","textgreaterg","novo","mutation","child","mixed","ethnic","origins","benzoni","elena benzoni","valentina giannone","giannone","michetti","seia","cavalleri","curcio","curcio"],"title":"Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A\\textgreaterG] as a De Novo Mutation in a Child of Mixed Ethnic Origins.","year":2017}