Work

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

Year: 2013

Type: article

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.

Source: Pediatric Blood & Cancer

DOI: 10.1002/pbc.24581

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

Institutions: Technion – Israel Institute of Technology, Emek Medical Center, Tel Aviv University, Schneider Children's Medical Center, Clalit Health Services

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W1521662765

FWCI: 0.427

Cites: 8

Cited by: 7

Related to: 10