Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant. Kent, M. W., Oliveira, J. L., Hoyer, J. D., Swanson, K. C., Kluge, M. L., Dawson, D. B., Liang, X., Winkler, T. J., Breaux, C. W., LaCount, R., & Silliman, C. C. Hemoglobin, 38(1):8–12, January, 2014. MAG ID: 2090661925doi abstract bibtex AbstractHyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348_349delinsG; p.His117IlefsX42), resulting from a frameshift mutation at codons 115/116 of the β-globin gene. Both patients also have a 3.7kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.
@article{kent_hb_2014,
title = {Hb {Grand} {Junction} ({HBB}: c.348\_349delinsG; p.{His117IlefsX42}): {A} {New} {Hyperunstable} {Hemoglobin} {Variant}},
volume = {38},
doi = {10.3109/03630269.2013.853672},
abstract = {AbstractHyperunstable hemoglobinopathy (HUH) [dominantly inherited β-thalassemia (β-thal)] is a relatively rare form of congenital hemolytic anemia in which mutations occur in the genes encoding for α and β chains, or both chains of the hemoglobin (Hb) molecule. We describe two Hispanic adolescents with a new unstable Hb variant (HBB: c.348\_349delinsG; p.His117IlefsX42), resulting from a frameshift mutation at codons 115/116 of the β-globin gene. Both patients also have a 3.7kb deletion on one α gene, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.},
number = {1},
journal = {Hemoglobin},
author = {Kent, Michael W. and Oliveira, Jennifer L. and Hoyer, James D. and Swanson, Kenneth C. and Kluge, Michelle L. and Dawson, D. Brian and Liang, Xiayuan and Winkler, Tyler J. and Breaux, Charles W. and LaCount, Rachel and Silliman, Christopher C.},
month = jan,
year = {2014},
doi = {10.3109/03630269.2013.853672},
pmid = {24432801},
note = {MAG ID: 2090661925},
pages = {8--12},
}
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