this landmark article by frantisek hermansky and paulus pudlak, clini

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DOI 10.1182/blood-2016-01-696435 © 2016 by The American Society of Hematology 1959 a s h b a c k XThe articles featured in the Blood Flashback series were selected and the commentaries written by the Blood Editors. Complete versions of all the articles in the series, commemorating the journal’s 70th-anniversary year, can be found on the Blood Web site at www.bloodjournal.org/collection/blood-ashback. Leading the Way in Hematology T his landmark article by Frantisek Hermansky and Paulus Pudlak, clini- cians in Prague, Czechoslovakia, is the rst to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The denition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syn- drome is now known to be related to defective dense granule biogenesis due to mutations in any of 9 different genes. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959; 14(2):162-169. For personal use only. on March 16, 2018. by guest www.bloodjournal.org From

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Page 1: This landmark article by Frantisek Hermansky and Paulus Pudlak, clini

DOI 10.1182/blood-2016-01-696435

© 2016 by The American Society of Hematology

1959flashback

The articles featured in the Blood Flashback series were selected and the commentaries written by the Blood Editors. Complete versions of all the articles in the series, commemorating the journal’s 70th-anniversary year, can be found on the Blood Web site at www.bloodjournal.org/collection/blood-fl ashback.

Leading the Way in Hematology

This landmark article by Frantisek Hermansky and Paulus Pudlak, clini-

cians in Prague, Czechoslovakia, is the fi rst to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The defi nition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syn-drome is now known to be related to defective dense granule biogenesis due to mutations in any of ≥9 different genes.

Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169.

For personal use only.on March 16, 2018. by guest www.bloodjournal.orgFrom

Page 2: This landmark article by Frantisek Hermansky and Paulus Pudlak, clini

doi:10.1182/blood-2016-01-6964352016 127: 1731  

 . 1959;14(2):162-169.Bloodcases with histochemical studies.

and unusual pigmented reticular cells in the bone marrow: report of two Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis 

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  Copyright 2011 by The American Society of Hematology; all rights reserved.of Hematology, 2021 L St, NW, Suite 900, Washington DC 20036.Blood (print ISSN 0006-4971, online ISSN 1528-0020), is published weekly by the American Society

For personal use only.on March 16, 2018. by guest www.bloodjournal.orgFrom