Two New Hemoglobin Variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C\textgreaterA] and Hb Madison-NC [β119(GH2)Gly→Ser; HBB: c.358G\textgreaterA]. Kutlar, F., Unguru, Y., Natalia Dixon, Dixon, N., Patel, N., Bailey, L., Zhuang, L., Carmichael, H., & Kutlar, A. Hemoglobin, 38(3):207–210, May, 2014. MAG ID: 2055169979doi abstract bibtex AbstractOf the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C\textgreaterA] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G\textgreaterA] called Hb Madison-NC.
@article{kutlar_two_2014-1,
title = {Two {New} {Hemoglobin} {Variants}: {Hb} {Tallahassee} [α3({A1}){Ser}→{Tyr}; {HBA2}: c.{11C}{\textgreater}{A}] and {Hb} {Madison}-{NC} [β119({GH2}){Gly}→{Ser}; {HBB}: c.{358G}{\textgreater}{A}]},
volume = {38},
doi = {10.3109/03630269.2014.881371},
abstract = {AbstractOf the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C{\textgreater}A] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G{\textgreater}A] called Hb Madison-NC.},
number = {3},
journal = {Hemoglobin},
author = {Kutlar, Ferdane and Unguru, Yoram and {Natalia Dixon} and Dixon, Natalia and Patel, Niren and Bailey, Lakiea and Zhuang, Lina and Carmichael, Harris and Kutlar, Abdullah},
month = may,
year = {2014},
doi = {10.3109/03630269.2014.881371},
pmid = {24471829},
note = {MAG ID: 2055169979},
pages = {207--210},
}
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Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C\\textgreaterA] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G\\textgreaterA] called Hb Madison-NC.","number":"3","journal":"Hemoglobin","author":[{"propositions":[],"lastnames":["Kutlar"],"firstnames":["Ferdane"],"suffixes":[]},{"propositions":[],"lastnames":["Unguru"],"firstnames":["Yoram"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Natalia Dixon"],"suffixes":[]},{"propositions":[],"lastnames":["Dixon"],"firstnames":["Natalia"],"suffixes":[]},{"propositions":[],"lastnames":["Patel"],"firstnames":["Niren"],"suffixes":[]},{"propositions":[],"lastnames":["Bailey"],"firstnames":["Lakiea"],"suffixes":[]},{"propositions":[],"lastnames":["Zhuang"],"firstnames":["Lina"],"suffixes":[]},{"propositions":[],"lastnames":["Carmichael"],"firstnames":["Harris"],"suffixes":[]},{"propositions":[],"lastnames":["Kutlar"],"firstnames":["Abdullah"],"suffixes":[]}],"month":"May","year":"2014","pmid":"24471829","note":"MAG ID: 2055169979","pages":"207–210","bibtex":"@article{kutlar_two_2014-1,\n\ttitle = {Two {New} {Hemoglobin} {Variants}: {Hb} {Tallahassee} [α3({A1}){Ser}→{Tyr}; {HBA2}: c.{11C}{\\textgreater}{A}] and {Hb} {Madison}-{NC} [β119({GH2}){Gly}→{Ser}; {HBB}: c.{358G}{\\textgreater}{A}]},\n\tvolume = {38},\n\tdoi = {10.3109/03630269.2014.881371},\n\tabstract = {AbstractOf the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. 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