RESUMEN
Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia. We present a case of hereditary TTP with an undescribed compound heterozygous ADAMTS13 mutation in a Chinese boy. A 12-year-old boy with a history of intermittent thrombocytopenia in the prior 6 years had severe deficiency of plasma ADAMTS13 and harbored a novel compound heterozygous mutation which was also identified in his sister. The c.577C>T was a pathogenic variant reported exclusively in Japanese cases. The undescribed c.2397C>A non-sense mutation was predicted to encode a truncated protein. Identification of the specific novel heterozygous ADAMTS13 mutation in the Chinese family, consisting a variant restricted to Asian individuals and an undescribed c.2397C>A non-sense mutation, demonstrates genetic diversity underlying hereditary TTP, and possibly ethnic skewed mutation profiles.