Up to now 24 patients with oculocutaneous albinism have been investigated in this study to find out the frequency of characteristic signs of HPS. Seven of them suffered from mild bleeding tendency. Platelet defects of storage pool disorder type have been revealed at a varying degree in all these cases. (Aggregation abnormalities, decrease of total platelet ADP contents and of its release, lower serotonin uptake with the lack of very dense bodies in ultrathin sections). This thrombocytophathy has been regularly associated with the storage of pigment typical for HPS in their bone marrow. In 7 of 17 remaining albinos with normal platelet functions some increase in the accumulation of non-specific cytochemically different lipopigments was noted.Our results demonstrate a rather frequent occurence of HPS in albinos and suggest a mutation of one common gene or of closely linked genes as a cause of complete HPS.
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