Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily

Hemoglobin. 2002 Feb;26(1):1-5. doi: 10.1081/hem-120002934.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution*
  • Chromatography, High Pressure Liquid
  • Codon / genetics*
  • DNA Mutational Analysis
  • False Positive Reactions
  • Female
  • Genotype
  • Globins / genetics*
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics
  • Hemoglobins, Abnormal / isolation & purification*
  • Humans
  • Male
  • Mass Screening
  • Middle Aged
  • Mutation, Missense*
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length
  • Sicily / epidemiology
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / epidemiology

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin A2-Monreale
  • Globins