Frequency of delta+ 27-thalassaemia in Sardinians

Clin Lab Haematol. 1996 Dec;18(4):241-4.

Abstract

To determine the incidence of delta+ 27 thalassaemia in Northern Sardinia we examined blood samples from 750 Sardinian schoolboys by PCR-based molecular analysis. The incidence of delta+ 27 mutation was 1.2% in this study, i.e. twice as high as previously described on the basis of phenotypical studies; the frequency of the beta-thalassaemia is 10.5% and their interaction has been calculated at 0.0003. The majority of delta+ 27 carriers are characterized by a HbA2 level lower than 1.9% and the mean HbA2 level is significantly lower than in normal subjects. All compound heterozygotes for delta+ 27 and beta-thalassaemia show a silent beta-thalassaemic phenotype related to normalization of their HbA2 levels. This study suggests that delta+ 27 thalassaemia should be borne in mind in counselling at-risk couples in which one member has the typical high HbA2 beta-thal trait while the other shows normal or borderline HbA2 level. In these subjects, PCR-based ECO O 109 I digestion of the delta globin gene allows rapid detection of the delta+ 27 mutation.

MeSH terms

  • Adolescent
  • DNA Mutational Analysis
  • Erythrocytes, Abnormal / physiology
  • Globins / chemistry
  • Globins / genetics
  • Haplotypes / genetics
  • Hemoglobin A2 / genetics
  • Hemoglobin A2 / metabolism
  • Heterozygote
  • Humans
  • Incidence
  • Italy / epidemiology
  • Male
  • Point Mutation / genetics
  • Point Mutation / physiology
  • Polymerase Chain Reaction
  • Thalassemia / blood
  • Thalassemia / epidemiology*
  • Thalassemia / genetics
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / physiopathology
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics
  • beta-Thalassemia / prevention & control

Substances

  • Globins
  • Hemoglobin A2