Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 26, No. 5, 2016, pp. 105-110
Bioline Code: pe16080
Full paper language: English
Document type: Case Report
Document available free of charge
Iranian Journal of Pediatrics, Vol. 26, No. 5, 2016, pp. 105-110
© Copyright - 2016 Iranian Journal of Pediatrics
Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies|
Arzanian, Mohammad Taghi
Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders
is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is
usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of
hereditary thrombocytopenia also vary from seldom and mild to severe bleeding and occasionally may first occur in late childhood.
In this group of patients, we must differentiate heritable disorders from the acquired types of thrombocytopenia, like immune
thrombocytopenic purpura. It is also important to watch for pitfalls to avoid unnecessary and potentially hazardous treatment.
Herein, we briefly review the recent literature on hereditary thrombocytopenia and then present the cases of two referred patients.
The first case had suffered from persistent thrombocytopenia since early infancy and was diagnosed with congenital amegakaryocytic
thrombocytopenia, while the other patient presented with Wiskott - Aldrich syndrome.
Hereditary Thrombocytopenia; Mean Platelet Volume (MPV); Non-Muscle Myosin; NMMHC-IIA
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