A novel hereditary macrothrombocytopenia.
J Pediatr Hematol Oncol
; 17(4): 296-305, 1995 Nov.
Article
in En
| MEDLINE
| ID: mdl-7583384
ABSTRACT
PURPOSE:
A family is described in which macrothrombocytopenia and hearing loss are transmitted in an autosomal-dominant fashion. PATIENTS ANDMETHODS:
Several members of the family were studied extensively. Review of blood smears, coagulation studies, platelet function testing, and electron microscopy were performed. Platelet membrane glycoproteins were examined using flourescein-conjugated antibodies and flow cytometry.RESULTS:
Platelet counts ranged from 50,000 to 123,000/microliters. Both mean platelet diameter and volume were increased. No leukocyte inclusions were noted by light or electron microscopy. Platelet aggregation was normal with adenosine diphosphate (ADP), collagen, and ristocetin but diminished with epinephrine and arachidonic acid. Flow cytometry showed normal platelet membrane glycoproteins and the unusual expression of glycophorin A on 40-60% of the giant platelets.CONCLUSIONS:
This family's syndrome of macrothrombocytopenia and late-onset hearing loss appears to represent a novel giant platelet disorder. The expression of glycophorin A suggests disordered megakaryocytopoiesis with the early release of immature platelets.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Thrombocytopenia
/
Blood Platelets
Limits:
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Pediatr Hematol Oncol
Journal subject:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Year:
1995
Document type:
Article
Affiliation country:
United States
Publication country:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA