Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]

James D. Hoyer; Prabhjot Kaur; Elizabeth A. Kozak; Sophia Lum; David N. Alter

doi:10.1080/03630260802341901

Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]

James D. Hoyer, Prabhjot Kaur, Elizabeth A. Kozak, Sophia Lum, David N. Alter

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

We report on five hemoglobin (Hb) β chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.

Original language	English (US)
Pages (from-to)	471-477
Number of pages	7
Journal	Hemoglobin
Volume	32
Issue number	5
DOIs	https://doi.org/10.1080/03630260802341901
State	Published - Sep 2008

Keywords

Hemoglobinopathy
β-Globin chain variants

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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Hoyer, J. D., Kaur, P., Kozak, E. A., Lum, S., & Alter, D. N. (2008). Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]. Hemoglobin, 32(5), 471-477. https://doi.org/10.1080/03630260802341901

Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]. / Hoyer, James D.; Kaur, Prabhjot; Kozak, Elizabeth A. et al.
In: Hemoglobin, Vol. 32, No. 5, 09.2008, p. 471-477.

Research output: Contribution to journal › Article › peer-review

Hoyer, JD, Kaur, P, Kozak, EA, Lum, S & Alter, DN 2008, 'Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]', Hemoglobin, vol. 32, no. 5, pp. 471-477. https://doi.org/10.1080/03630260802341901

Hoyer, James D. ; Kaur, Prabhjot ; Kozak, Elizabeth A. et al. / Five variants of the β-globin gene without clinical or hematological effects : Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]. In: Hemoglobin. 2008 ; Vol. 32, No. 5. pp. 471-477.

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Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]

Abstract

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