A novel telomeric ( 285 kb) -thalassemia deletion leading to a phenotypically unusual HbH disease

Many large deletions removing the entire α-globin gene cluster on the short arm of the human chromosome 16 (16p13.3) have been described.[1][1]–[3][2] At the heterozygous state, the resulting phenotype consists in α-thalassemia (α-thal) for relatively short deletions (100 to 356 kb) while an