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.
|Number of pages||3|
|Publication status||Published - 2000|
- Hb Constant Spring
- Hb H disease
ASJC Scopus subject areas