Article

Unusual combination of genetic defects in a Sicilian boy: Gγ Aγ δβ thalassemia, Gγ Aγ heterocellular HPFH, βº thalassemia, and albinism

  1. G. Schilirò*,
  2. L. Pavone,
  3. M. A. Romeo,
  4. A. Russo,
  5. S. Musumeci,
  6. G. Russo,
  7. John M. Opitz Editor

Article first published online: 2 JUN 2005

DOI: 10.1002/ajmg.1320150206

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 15, Issue 2, pages 225–231, June 1983

Additional Information

How to Cite

Schilirò, G., Pavone, L., Romeo, M. A., Russo, A., Musumeci, S., Russo, G. and Opitz, J. M. (1983), Unusual combination of genetic defects in a Sicilian boy: Gγ Aγ δβ thalassemia, Gγ Aγ heterocellular HPFH, βº thalassemia, and albinism. Am. J. Med. Genet., 15: 225–231. doi: 10.1002/ajmg.1320150206

Author Information

  1. Department of Pediatrics, University of Catania, Catania, Sicily, Italy

*Clinica Pediatrica Università, Viale A. Doria 6, 95125 Catania, Italy

Publication History

  1. Issue published online: 2 JUN 2005
  2. Article first published online: 2 JUN 2005
  3. Manuscript Revised: 3 JAN 1983
  4. Manuscript Received: 11 JUN 1982

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Keywords:

  • Gγ Aγ δβ thalassemia;
  • βº thalassemia;
  • heterocellular HPFH;
  • albinism

Abstract

We describe the clinical and hematological findings in a 5-year-old boy with Gγ Aγ δβ thalassemia, a Gγ Aγ heterocellular form of HPFH, βº thalassemia, and albinism. Clinically he manifested only the characteristics of β-thalassemia trait and not the typical picture of doubly heterozygous β thal/δβ thal. The simultaneous presence of heterocellular HPFH improves γ chain synthesis, thus reducing the α chain excess. It is also possible that gene expression can be modified by the presence of other genetic anomalies.

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