Authors
AS Von Krogh, P Quist‐Paulsen, A Waage, ØO Langseth, K Thorstensen, R Brudevold, GE Tjønnfjord, Carlo Rodolfo Largiadèr, Bernhard Lämmle, JA Kremer Hovinga
Publication date
2016/1/1
Journal
Journal of thrombosis and haemostasis
Volume
14
Issue
1
Pages
73-82
Publisher
Elsevier
Description
Essentials
- •The population prevalence of hereditary thrombotic thrombocytopenic purpura (TTP) is unknown.
- •We studied the prevalence of hereditary TTP and population frequencies of two ADAMTS‐13 mutations.
- •A high frequency of hereditary TTP related to ADAMTS‐13 mutation c.4143_4144dupA was found.
- •Vicinity of ABO blood group and ADAMTS‐13 loci may facilitate screening of ADAMTS‐13 mutations.
Summary: Background
Hereditary thrombotic thrombocytopenic purpura (TTP) caused by ADAMTS‐13 mutations is a rare, but serious condition. The prevalence is unknown, but it seems to be high in Norway.
Objectives
To identify all patients with hereditary TTP in central Norway and to investigate the prevalence of hereditary TTP and the population frequencies of two common ADAMTS‐13 mutations.
Patients/Methods
Patients were identified in a cross‐sectional study within the Central Norway Health …
Scholar articles
AS Von Krogh, P Quist‐Paulsen, A Waage… - Journal of thrombosis and haemostasis, 2016