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Definition

An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.

Acronym

MATINS

Synonyms

Alport syndrome, with macrothrombocytopenia
BDPLT6
Bleeding disorder platelet-type 6
Dohle leukocyte inclusions with giant platelets
Epstein syndrome
EPSTNS
Fechtner syndrome
FTNS
Giant platelet syndrome with thrombocytopenia
Macrothrombocytopathy, nephritis, and deafness
Macrothrombocytopathy-nephritis-deafness
Macrothrombocytopenia and progressive sensorineural deafness
Macrothrombocytopenia with leukocyte inclusions
May-Hegglin anomaly
MHA
MPSD
SBS
Sebastian platelet syndrome
Sebastian syndrome

 
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