Open AccessANKRD26-related thrombocytopenia: case report and literature review of inherited thrombocytopenias with predisposition to malignancies
Author(s) -
Ya.A. Erdomaeva,
Д. В. Федорова,
П. А. Жарков,
М. А. Курникова,
Sarabdeep Mann,
Е. В. Райкина
Publication year - 2019
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 3
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2019-18-3-54-61
Subject(s) - medicine , genetic predisposition , pathogenesis , pediatrics , immunology , disease
ANKRD26-related thrombocytopenia (previously known as thrombocytopenia-2) is a rare form of inherited platelet disorders. Patients with ANKRD26-related thrombocytopenia usually do not suffer from severe bleeding but have predisposition to acute myeloid leukemia and other malignancies. Patients with ANKRD26-related thrombocytopenia and their relatives need genetic consultation and long term follow-up in view of risk of malignant blood disorders. The clinical case of ANKRD26-related thrombocytopenia in two siblings is presented in this paper. Review of literary data on pathogenesis, treatment and follow-up of patients with ANKRD26-related thrombocytopenia is performed. Common questions of diagnosis and management in patients with congenital thrombocytopenias with predisposition to malignant blood disorders are also reviewed. Parents gave their permission for using personal data for clinical research and publications.