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Interaction of α- and δβ0-thalassaemia: haematological features and globin chain synthesis analysis
  1. R Galanello,
  2. M Furbetta,
  3. M A Melis,
  4. C Rosatelli,
  5. A Cao
  1. 2nd Pediatric Clinic, University of Cagliari, Sardinia, Italy

    Abstract

    An observation of suspected interaction of δβ0- and α-thalassaemia, identified through careful examination of the family, is reported. The δβ0-thalassaemia was of the usual type found in Sardinia, characterised by high Hb F levels and very low levels of glycine in the isolated γCB3 peptide. The haematological findings in the double δβ0-/α-thalassaemia heterozygotes were: normal MCV and Hb A2 levels, increased Hb F (11·3 to 16·8%) heterogeneously distributed in red cells, and almost balanced α/β globin chain synthesis ratios.

    https://doi.org/10.1136/jmg.18.1.40

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