Journal
PEDIATRIC BLOOD & CANCER
Volume 60, Issue 10, Pages E128-E130Publisher
WILEY
DOI: 10.1002/pbc.24581
Keywords
autosomal recessive; bleeding; familial thrombocytopenia; small-platelet
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We describe the clinical and laboratory features of a family of Arab ancestry and consanguinity. Five affected individuals were diagnosed in two sibships. All affected members have small platelets, severe to moderate thrombocytopenia of neonatal onset, increased bleeding tendency and bleeding complications such as: life-threatening massive hemoperitoneum due to corpus luteum rupture during ovulation and severe mucosal bleeding. The familial involvement and early onset of the disease support the presence of a congenital genetic disorder with an autosomal recessive inheritance pattern. This does not fit the clinical spectrum of any of the currently known thrombocytopenia disorders. Pediatr Blood Cancer 2013;60:E128-E130. (c) 2013 Wiley Periodicals, Inc.
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