Alpha thalassaemia in Sardinian newborns

Br J Haematol. 1984 Oct;58(2):361-8. doi: 10.1111/j.1365-2141.1984.tb06095.x.

Abstract

In this study we describe the correlation between the haematological parameters (red cell indices and Hb Bart's levels) and the alpha-globin genotype in Sardinian newborns. Increased Hb Bart's levels at birth always indicates alpha-thalassaemia, either of the deletion or non-deletion variety. Infants with two alpha-globin genes deleted (- alpha/- alpha and --/ alpha alpha genotypes) had microcytosis, low MCH and Hb Bart's in the 2.0-7.1% range. A minority (38.9%) of infants with the (- alpha/ alpha alpha) globin genotype had detectable Hb Bart's, in the 0.78-2.5% range, frequently associated with minimal microcytosis while the remainder (61.1%) were completely silent. Infants carriers of a non-deletion type of alpha-thalassaemia showed Hb Bart's levels within the range found in the (- alpha / alpha alpha) genotype. The association of heterozygous beta 0-thalassemia seems to have no effect on the expression of any of these alpha-thalassaemia lesions at birth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Erythrocyte Indices
  • Gene Frequency
  • Genotype
  • Globins / genetics*
  • Hemoglobins, Abnormal / analysis
  • Humans
  • Infant, Newborn
  • Italy
  • Thalassemia / epidemiology
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins
  • hemoglobin Bart's