[HTML][HTML] Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

F Hermansky, P Pudlak - Blood, 1959 - Elsevier
F Hermansky, P Pudlak
Blood, 1959Elsevier
HEMORRHAGIC DISORDERS with a prolonged bleeding time as a main laboratory finding
and a normal platelet count may have a varying pathogenesis. They are usually caused by
qualitative changes of the platelets or a disturbance of the vascular factor in the process of
hemostasis. 29 They are for the most part congenital and hereditary anomalies, which,
despite the progress made in this field, are still difficult to classify into well-defined groups. 2,
20 We had the opportunity of observing a hemorrhagic disorder of medium severity with a …
HEMORRHAGIC DISORDERS with a prolonged bleeding time as a main laboratory finding and a normal platelet count may have a varying pathogenesis. They are usually caused by qualitative changes of the platelets or a disturbance of the vascular factor in the process of hemostasis. 29 They are for the most part congenital and hereditary anomalies, which, despite the progress made in this field, are still difficult to classify into well-defined groups. 2, 20 We had the opportunity of observing a hemorrhagic disorder of medium severity with a prolonged bleeding time in two unrelated albinos. These observations were made independently in two separate institutions. Both cases had concomitant congenital nystagmus, and in both, large reticular cells with an unusual pigment were found in the bone marrow, which could not be identified with reference to similar cells described in the litera-ture. 15, 24 The combination of these abnormalities independently observed in two unrelated patients suggested that we were confronted with a new, not previously described congenital anomaly.
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