Homozygous Constant Spring: The first case described in the West

N. I. Noguera, F. A. Gonzalez, P. Ropero, E. Anguita, A. C. Milani, A. Villegas

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Abstract

In this work we present the clinical and laboratory data and the molecular identification of homozygosity for Constant Spring in an Argentinian man with parents of Sicilian origin (Palermo). The presence of this mutation in the homozygous form in the West and the difficulty of detecting it in heterozygotes by classical methods suggest that probably more cases exist.

Original languageEnglish
Pages (from-to)667-669
Number of pages3
JournalHaematologica
Volume85
Issue number6
Publication statusPublished - 2000

Keywords

  • α-thalassemia
  • Hb Constant Spring
  • Hb H disease

ASJC Scopus subject areas

  • Hematology

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  • Cite this

    Noguera, N. I., Gonzalez, F. A., Ropero, P., Anguita, E., Milani, A. C., & Villegas, A. (2000). Homozygous Constant Spring: The first case described in the West. Haematologica, 85(6), 667-669.