Characterization of a new alpha-thalassemia-1 mutation in a Spanish family

Hemoglobin. 1994 Jan;18(1):29-37. doi: 10.3109/03630269409014143.

Abstract

A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • Child
  • Chromosomes, Human, Pair 16*
  • Female
  • Gene Deletion*
  • Gene Frequency
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Prevalence
  • Pseudogenes
  • Spain / epidemiology
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*

Substances

  • Globins