Article
Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.
Blood - 15 Jan 1991
Podda A, Galanello R, Maccioni L, Melis M A, Rosatelli C, Perseu L, Cao A
Abstract excerpt
This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation. Normal sequences were detected at the homologous beta-globin locus. This mutation results in the substitution of a polar (glutamic acid) for a...
Topics
- Anemia, Hemolytic
- Base Sequence
- Globins
- Hemoglobins, Abnormal
- Humans
- Infant
- Isoelectric Point
- Mutation
- Oligonucleotides
- Polymerase Chain Reaction
- Thalassemia