Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern

Carina Levin, Lucia Zalman, Hannah Tamary, Tanya Krasnov, Morad Khayat, Stavit Shalev, Ihsan Salama, Ariel Koren

Research output: Contribution to journalArticlepeer-review

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. Pediatr Blood Cancer 2013;60:E128-E130.

Original languageEnglish
Pages (from-to)E128-E130
JournalPediatric Blood and Cancer
Volume60
Issue number10
DOIs
StatePublished - Oct 2013

Keywords

  • Autosomal recessive
  • Bleeding
  • Familial thrombocytopenia
  • Small-platelet

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