title: Utility and importance of accurate Hb A2 measurements for defining a strategy for β-thalassemia screening: experience in the Balearic Islands, Spain.
abstract: The high heterogeneity in regional profiles of β-thalassemia (β-thal) mutations highlights the need for population-specific carrier detection strategies. Our aim was to analyze the relationship between hematological values and β(0) and β(+) mutations in 154 Balearic β-thal heterozygotes, in order to establish the most optimized mutation carrier detection strategy to be used to manage the disease in our population. The Hb A2 level was the best parameter for discriminating between both types of carriers. Taking into account the cut-off point value of 4.85% (Hb A2), obtained by a receiver-operating characteristic (ROC) curve analysis, we proposed an algorithm that would use a real-time polymerase chain reaction (RT-PCR) hybridization probe assay technique to detect one of the two most common mutations in the Balearic population, namely codon 39 (C>T) and IVS-I-110 (G>A), depending on the Hb A2 value of the patient.
authors: Servicio de Análisis Clínicos, Hospital Universitario Son Espases , Palma de Mallorca, Illes Balears , Spain.
authors: Herminio
authors: H
authors: López-Escribano
authors: Maria M
authors: MM
authors: Parera
authors: Pilar
authors: P
authors: Guix
authors: José A
authors: JA
authors: Castro
authors: Misericòrdia
authors: M
authors: Ramon
authors: Antònia
authors: A
authors: Picornell
mesh_terms: D000465:Algorithms; D000483:Alleles; D004909:Erythrocyte Indices; D005838:Genotype; D006443:Hemoglobin A2 / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012372:ROC Curve; D013030:Spain; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006443:Hemoglobin A2