Ankyrin gene mutations in Japanese patients with hereditary spherocytosis *
To elucidate the pathogenesis of hereditary spherocytosis (HS) in the Japanese population, we studied the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with HS. Sixty-seven patients from 63 unrelated families were included in this study. Nineteen mutations of the ANK-1 gene pathognomonic for HS from 20 families were identified : nine frameshift mutations, four nonsense mutations, and six abnormal splicing mutations. These mutations have not been previously reported, and are thought to be specific to the Japanese population. The incidence of ANK-1 gene mutations in Japanese HS patients ranges from at the least 30% to 50% of the total HS kindred. At the protein level, ankyrin deficiency was not observed in these 20 patients with ankyrin mutations. In contrast, mild deficiency of protein 4.2 (P4.2) was observed in 17 patients (85%) with ankyrin mutations. Therefore, it is feasible that most cases of HS with a mild deficiency of P 4.2 at the protein level, most common in Japanese HS kindred, are caused by ankyrin mutations. (Accepted on February 26, 2002) Kawasaki Igakkaishi 28(2) : 73 - 82, 2002
