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Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 5
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Research Article

Two New γ Chain Variants: Hb F-Augusta GA [Gγ59(E3)Lys → Arg; HBG2: c.179A > G] and Hb F-Port Royal-II [Aγ125(H3)Glu → Ala; HBG1: c.377A > C]

, , , , , & show all
Pages 376-380 | Received 05 Feb 2014, Accepted 11 Apr 2014, Published online: 01 Oct 2014
 

Abstract

The total number of hemoglobin (Hb) variants so far reported to the HbVar database is 1598 (April 9 2014) and 130 of them are fetal Hb variants. Fetal Hb are categorized as two different subunits, Gγ- and Aγ-globin chains, and γ chain variants can be observed in both subunits. There are 72 Gγ- and 58 Aγ-globin chain variants. Most of them are clinically silent and detected during newborn screening programs in the USA and outside the USA. In this report, we discuss the molecular characteristics and diagnostic difficulties of two new γ-globin chain variants found in an African American baby with no clinical symptoms. One is a new Gγ-globin chain variant, Hb F-Augusta GA [Gγ59(E3)Lys → Arg; HBG2: c.179A > G] and the other one is Hb F-Port Royal-II [Aγ125(H3)Glu → Ala; HBG1: c.377A > C].

Acknowledgments

The authors are grateful to Harris Carmichael at the T.H.J. Huisman Hemoglobinopathy Laboratory, GRU, Augusta, GA, USA, and Dr. Kathryn McCusker at the Department of Pediatric Hematology/Oncology, GRU, Augusta, GA, USA for their help in these studies.

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