Article
Hemoglobin Ozieri: a new alpha-chain variant (alpha 71(E20)Ala-->Val). Characterization using FAB- and electrospray-mass spectrometric techniques.
Biochimica et biophysica acta - 5 Mar 1993
Ferranti P, Parlapiano A, Malorni A, Pucci P, Marino G, Cossu G, Manca L, Masala B
Abstract excerpt
A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. This asymptomatic variant was detected by means of isoelectric focusing (IEF), isolated using IEF in a...
Topics
- Alanine
- Base Sequence
- Fetal Blood
- Globins
- Hemoglobinopathies
- Hemoglobins, Abnormal
- Humans
- Infant, Newborn
- Isoelectric Focusing
- Italy
- Mass Spectrometry
- Mutation
- Valine