Steve Keeney

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Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous for the p.C282Y variant in the HFE gene, referred to as HFE-related HH. Since 1996, HFE genotyping was(More)
The UK treatment strategy for von Willebrand disease (VWD) is based on consensus guidelines produced by the United Kingdom Haemophilia Centre Doctors' Organization (UKHCDO) relating to the diagnosis and management of VWD. Selection of therapeutic products suitable for treatment of this complex inherited bleeding disorder is based on the observed response.(More)
1.5 Mutational spectrum Haemophilia B results from the deficiency of blood coagulation factor IX (FIX). All heritable cases of haemophilia B are due to mutations in or near the factor IX gene (F9). The gene located on Xq27.1–27.2 is B36 kb long and comprises eight exons. Severe haemophilia (FIXo1% of normal) is caused by a wide spectrum of mutations(More)
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