Alpha thalassaemia in an Italian population

Br J Haematol. 1986 Jul;63(3):497-501. doi: 10.1111/j.1365-2141.1986.tb07526.x.

Abstract

The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

MeSH terms

  • Chromosome Deletion
  • Fetal Blood / analysis
  • Globins / genetics
  • Hemoglobins, Abnormal / analysis
  • Humans
  • Infant, Newborn
  • Italy
  • Thalassemia / blood
  • Thalassemia / epidemiology*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Globins
  • hemoglobin Bart's