Platelet dysfunction caused by a novel thromboxane A
15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid
/ pharmacology
Adult
Arachidonic Acid
/ pharmacology
Blood Platelet Disorders
/ genetics
Blood Platelets
/ drug effects
Child, Preschool
Female
Hemorrhage
/ genetics
Hemorrhagic Disorders
/ genetics
Heterozygote
Humans
Male
Mutation
Phenotype
Platelet Count
Receptors, Thromboxane A2, Prostaglandin H2
/ genetics
Thrombocytopenia
/ congenital
Tubulin
/ blood
Aspirin-like defect
beta1 tubulin
inherited platelet disorder
thrombocytopenia
thromboxane A2 receptor
Journal
Platelets
ISSN: 1369-1635
Titre abrégé: Platelets
Pays: England
ID NLM: 9208117
Informations de publication
Date de publication:
2020
2020
Historique:
pubmed:
8
8
2019
medline:
2
10
2020
entrez:
8
8
2019
Statut:
ppublish
Résumé
Chronic hemorrhagic diathesis in patients showing normal levels of plasmatic clotting factors strongly suggests for congenital platelet disorders. We report on a pediatric patient (male, 3 years, D1) with mild bleeding. A sibling (D2), his mother (D3) and father (D4) were included for laboratory investigation. Platelet counts in D1, D2 and D4 indicated mild thrombocytopenia (100 Gpt/L). D1 and D3 platelets showed significantly diminished aggregation response on arachidonic acid and U46619 stimulation. Immunostaining for platelet proteins on blood smears of D1 and D2 indicated defects in ß1-tubulin. Exon sequencing of
Identifiants
pubmed: 31389738
doi: 10.1080/09537104.2019.1652264
doi:
Substances chimiques
Receptors, Thromboxane A2, Prostaglandin H2
0
TUBB1 protein, human
0
Tubulin
0
Arachidonic Acid
27YG812J1I
15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid
76898-47-0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM