Abstract
Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different β chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified β-globin genes. Functional studies could not be performed at this time.
Original language | English (US) |
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Pages (from-to) | 588-591 |
Number of pages | 4 |
Journal | Hemoglobin |
Volume | 32 |
Issue number | 6 |
DOIs | |
State | Published - Nov 2008 |
Keywords
- DNA sequencing
- High-performance liquid chromatography (HPLC)
- Newborn screening
- β chain variant
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical