Die Mediterrane Makrothrombozytopenie ist eine autosomal rezessive Erkrankung, die durch Mutationen in deb beiden Genen ABCG5 und ABCG8 hervorgerufen wird. Es sind die gleichen Gene, die auch für die Sitosterolämia verantwortlich sind. Bei der Makrothrombozytopenie und Stomatocytose stehen jedoch vor allem der Mangel an Thrombozyten und Erythrozyten aufgrund einer verstärkten Hämolyse im Vordergrund.
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OMIM.ORG article Omim 210250 |
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Orphanet article Orphanet ID 101022 |