Alpha delta granule deficiency

Orpha code: 734OMIM code: 185050

Definition

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.

Disease data
Classification

Disease

Synonyms
Alpha dense granule deficiency
Niedobór ziarnistości alfa
Combined alpha-delta platelet storage pool deficiency
ORPHA code
734
OMIM code
185050
ICD10 code
D69.1
ICD11 code
3B62.4

No additional description.

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