1. A description is given of two unrelated albinos with hemorrhagic diathesis and peculiar, pigmented reticular cells in the bone marrow.
2. On examining hemostasis, the only consistent abnormal laboratory finding was a prolonged bleeding time, so that the hemorrhagic disorder fell into the group of so-called pseudohemophilias.
3. Unusual reticuloendothelial cells in the bone marrow were packed with blackish or greenish blue granules or particles. According to the histochemical study, the substance in the cytoplasm was probably of a lipid nature. These cells could not be identified with similar cells of this kind which have so far been described.
4. The combination of the above described congenital abnormalities (albinism, pseudohemophilia and unusual pigmented macrophages in the bone marrow) in two unrelated patients suggests that a common syndrome is present.
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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