Hb Barika [alpha42(C7)Tyr–\textgreaterHis (alpha2)] leads to an alpha+ -Thalassemia-like syndrome. Préhu, C., Riou, J., & Wajcman, H. Hemoglobin, 31(1):17–22, January, 2007. MAG ID: 2047914602doi abstract bibtex In human deoxyhemoglobin (deoxyHb), the hydrogen bond between Aspβ99(G1) and Tyrα42(C7), located in the α1β2 interface, is crucial for the stability of the T structure. All the variants that could arise from a single point mutation affecting codon β99 have already been observed, leading always to erythrocytosis. Conversely, up to now, Hb Barika is the only example found in a patient in whom the α42 is mutated. From a biochemical point of view, for theoretical reasons, this substitution has already been extensively studied on recombinant hemoglobin (rHb). In the patient, Hb Barika is expressed at a level lower than expected for an α2 gene variant and leads to an α+-thalassemic-like syndrome.
@article{prehu_hb_2007,
title = {Hb {Barika} [alpha42({C7}){Tyr}--{\textgreater}{His} (alpha2)] leads to an alpha+ -{Thalassemia}-like syndrome.},
volume = {31},
doi = {10.1080/03630260601056833},
abstract = {In human deoxyhemoglobin (deoxyHb), the hydrogen bond between Aspβ99(G1) and Tyrα42(C7), located in the α1β2 interface, is crucial for the stability of the T structure. All the variants that could arise from a single point mutation affecting codon β99 have already been observed, leading always to erythrocytosis. Conversely, up to now, Hb Barika is the only example found in a patient in whom the α42 is mutated. From a biochemical point of view, for theoretical reasons, this substitution has already been extensively studied on recombinant hemoglobin (rHb). In the patient, Hb Barika is expressed at a level lower than expected for an α2 gene variant and leads to an α+-thalassemic-like syndrome.},
number = {1},
journal = {Hemoglobin},
author = {Préhu, Claude and Riou, Jean and Wajcman, Henri},
month = jan,
year = {2007},
doi = {10.1080/03630260601056833},
pmid = {17365001},
note = {MAG ID: 2047914602},
pages = {17--22},
}
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