Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome
| Autor: | E. J. Walter Bowie, Marlys D. Krumwiede, Elizabeth A. Plumhoff, James G. White, Carl J. Witkop, Jane Swanson |
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| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty Storage pool Blood transfusion medicine.medical_treatment Hemorrhage Gastroenterology ABO Blood-Group System Von Willebrand factor Reference Values Risk Factors hemic and lymphatic diseases Internal medicine ABO blood group system mental disorders von Willebrand Factor Medicine Humans Platelet Blood Transfusion Pigmentation disorder Factor VIII biology business.industry Hemorrhagic diathesis Hematology medicine.disease eye diseases Surgery Pedigree Blood Grouping and Crossmatching Albinism Oculocutaneous biology.protein Female Disease Susceptibility Hermansky–Pudlak syndrome business |
| Zdroj: | American journal of hematology. 44(4) |
| ISSN: | 0361-8609 |
| Popis: | A study of 565 Puerto Rican patients with storage pool deficient (SPD) Hermansky-Pudlak syndrome (HPS) demonstrated that most HPS patients had minor bleeding episodes while others had repeated, severe hemorrhagic episodes requiring transfusion. The severity of bleeding in these latter patients could not be attributed to their SPD alone. As swine with SPD platelets and low von Willebrand factor antigen (vWF:Ag) have more severe hemorrhages than pigs with either defect alone, 146 albino patients and 46 normally pigmented patients were examined for their level of vWF:Ag. The risk of SPD HPS patients having severe, repeated bleeding episodes increased when vWF:Ag fell below 70 U/dL. Family studies indicated that low vWF:Ag levels were more frequently associated with O blood group than from a gene suppressing production or release of vWF1. HPS patients should be tested for vWF:Ag levels. |
| Databáze: | OpenAIRE |
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