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Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.
- Source :
-
Hemoglobin [Hemoglobin] 2002 Feb; Vol. 26 (1), pp. 1-5. - Publication Year :
- 2002
-
Abstract
- We report a novel mutation, Hb A2-Monreale [delta146(HC3)His-->Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CAT-->CGT substitution at codon 146 of the delta-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [beta146(HC3)His-->Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the delta-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia.
- Subjects :
- Adult
Alleles
Chromatography, High Pressure Liquid
DNA Mutational Analysis
False Positive Reactions
Female
Genotype
Hemoglobins, Abnormal chemistry
Hemoglobins, Abnormal genetics
Humans
Male
Mass Screening
Middle Aged
Polymorphism, Restriction Fragment Length
Sicily epidemiology
beta-Thalassemia diagnosis
beta-Thalassemia epidemiology
Amino Acid Substitution
Codon genetics
Globins genetics
Hemoglobins, Abnormal isolation & purification
Mutation, Missense
Point Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 0363-0269
- Volume :
- 26
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 11939506
- Full Text :
- https://doi.org/10.1081/hem-120002934