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Thrombin generation in two families with MYH9-related platelet disorder.

Authors
  • Zetterberg, Eva1
  • Carlsson Alle, Margareta S2
  • Najm, Juliane3
  • Greinacher, Andreas4
  • 1 a Department of Hematology and Coagulation , Skane University Hospital , Malmö , Sweden .
  • 2 b Department of Hematology , Växjö Central Hospital , Växjö , Sweden .
  • 3 c Department of Human Genetics , University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, Ernst Moritz Arndt University , Greifswald , Germany , and.
  • 4 d Institute of Immunology and Transfusion Medicine , Greifswald , Germany.
Type
Published Article
Journal
Platelets
Publisher
Informa UK (Taylor & Francis)
Publication Date
2016
Volume
27
Issue
3
Pages
264–267
Identifiers
DOI: 10.3109/09537104.2015.1064882
PMID: 26247237
Source
Medline
Keywords
License
Unknown

Abstract

MYH9-related platelet disorders are inherited macrothrombocytopenias with additional clinical manifestations including renal failure, hearing loss, pre-senile cataract, and inclusion bodies in leucocytes that are present in different combinations. The MYH9 gene codes for the cytoplasmic contractile protein non-muscular myosin heavy chain IIA, present in several tissues. The bleeding tendency is usually mild to moderate but rarely, thrombotic complications are also seen. We report on the thrombin generation potential (ETP) in patients with MYH9-related disease with and without arterial thrombosis. In family A, four affected members [c.5521G>A mutation causing p.(Glu1841Lys)] were evaluated. Three of them had a moderate bleeding tendency and in two renal insufficiency and hearing loss were already present. These two patients had an arterial thrombosis (myocardial infarction and pons infarction, respectively) before 50 years of age. In family B, two members were affected [c.4679T>G, resulting in p.(Val1560Gly)]. Their bleeding tendency was mild (bleeding scores 4 and 3, respectively). Thrombelastography (ROTEM) was normal in all six individuals. ETP was below the normal range in family B. However, in family A, the two members affected by thrombosis had a normal ETP, indicating that other factors compensated for the low platelet count and might have contributed to the arterial thrombosis.

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