title: Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern.
abstract: 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.
authors: Pediatric Hematology Unit and Pediatric Department B, Emek Medical Center, Afula, Israel. levin_c@clalit.org.il
authors: Carina
authors: C
authors: Levin
authors: Lucia
authors: L
authors: Zalman
authors: Hannah
authors: H
authors: Tamary
authors: Tanya
authors: T
authors: Krasnov
authors: Morad
authors: M
authors: Khayat
authors: Stavit
authors: S
authors: Shalev
authors: Ihsan
authors: I
authors: Salama
authors: Ariel
authors: A
authors: Koren
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006465:Hemoperitoneum / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013921:Thrombocytopenia / Q000235:genetics*
keywords: autosomal recessive; bleeding; familial thrombocytopenia; small-platelet