Abstract
Of 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>A] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G>A] called Hb Madison-NC.
Original language | English (US) |
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Pages (from-to) | 207-210 |
Number of pages | 4 |
Journal | Hemoglobin |
Volume | 38 |
Issue number | 3 |
DOIs | |
State | Published - 2014 |
Keywords
- Hemoglobin
- New
- Variant
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical