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

Zetterberg, Eva LU ; Carlsson Alle, Margareta S; Najm, Juliane and Greinacher, Andreas (2015) In Platelets p.1-4
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
MYH-9, platelet, thrombin generation, thrombosis
in
Platelets
issue
Aug 6
pages
1 - 4
publisher
Taylor & Francis
external identifiers
  • PMID:26247237
  • Scopus:84938861089
  • WOS:000373849700012
ISSN
1369-1635
DOI
10.3109/09537104.2015.1064882
language
English
LU publication?
yes
id
d73422f6-8c65-44ea-ad02-66f9b1b9e721 (old id 7844549)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26247237?dopt=Abstract
date added to LUP
2015-09-05 13:44:10
date last changed
2017-01-01 07:43:24
@article{d73422f6-8c65-44ea-ad02-66f9b1b9e721,
  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.},
  author       = {Zetterberg, Eva and Carlsson Alle, Margareta S and Najm, Juliane and Greinacher, Andreas},
  issn         = {1369-1635},
  keyword      = {MYH-9,platelet,thrombin generation,thrombosis},
  language     = {eng},
  number       = {Aug 6},
  pages        = {1--4},
  publisher    = {Taylor & Francis},
  series       = {Platelets},
  title        = {Thrombin generation in two families with MYH9-related platelet disorder.},
  url          = {http://dx.doi.org/10.3109/09537104.2015.1064882},
  year         = {2015},
}