Alpha delta granule deficiency
Også kjent som: Combined alpha-delta platelet storage pool deficiency
Engelsk navn: Alpha delta granule deficiency
Engelske synonym: Alpha dense granule deficiency,Combined alpha-delta platelet storage pool deficiency
Definisjon
A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.
Fra Orphanet
ORPHA: 734
Klassifiseringsnivå: Disorder
ICD-10: D69.1