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Blood, 1959, Vol. 14, No. 2, pp. 162-169.
© 1959 American Society of Hematology, Inc.
Albinism Associated with Hemorrhagic Diathesis and
Unusual Pigmented Reticular Cells in the Bone
Marrow: Report of Two Cases with Histochemical Studies
F. HERMANSKY 1 and
P. PUDLAK 1
1 First Medical Clinic, Charles University, Prague, and The Institute for
Hematology and Blood Transfusion, Clinical Department, Prague, Czechoslovakia.
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.
Submitted on January 30, 1958
Accepted on June 16, 1958
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