Novel 112 kb (ε G γ A γ) δβ‐thalassaemia deletion in a Dutch family

Summary. An adult autochthonous Dutch patient who had exhibited severe perinatal anaemia, with partial recovery a few months after birth, was studied for the presence of β‐thalassaemia. Southern blotting showed that the patient was heterozygous for a novel deletion in the β‐globin gene cluster, leaving the β‐gene intact. Inverse polymerase chain reaction was used to determine the breakpoint sequence. The deletion removed 112 kb starting upstream of the HOR5′b6 gene to the second intron of the A γ‐globin gene, including the locus control region. The breakpoint fragment identified a 13‐bp orphan... Mehr ...