Haemophilia B Brandenberg-type promoter mutation

We report the second confirmed case of the haemophilia B 'Brandenberg' phen otype. At the time of testing, patient HB530 was a 17-year-old post-puberty male with a persistent, clinically severe bleeding disorder and markedly r educed plasma procoagulant factor IX activity (< 1%). Sequencing studies re vealed a G-->A transition at bp - 26 within the promoter region of the fact or IX gene. This case report confirms the observation that not all patients with promoter mutations improve after puberty and supports the hypothesis that bp - 26 is a critical binding site within the factor IX gene promoter region for both constitutive as well as androgen-inducible transcription fa ctors.