Article
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes.
British journal of haematology - 1 Jan 2007
Origa R, Sollaino M C, Giagu N, Barella S, Campus S, Mandas C, Bina P, Perseu L, Galanello R
Abstract excerpt
In this study, 251 Sardinian patients (187 adults and 64 children) with haemoglobin (Hb) H disease were evaluated. Two-hundred and sixteen patients (86%) had the deletional type (- -/-alpha) and 36 (14%) patients had the non-deletional type (- -/alpha(ND)alpha). A clear genotype-phenotype correlation was found, with the non-deletional type more severe than the deletional type. Diagnosis of Hb H disease was...
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