Email this article ANKRD26-related thrombocytopenia: case report and literature review of inherited thrombocytopenias with predisposition to malignancies
- Authors: Erdomaeva Y.A.1, Fedorova D.V.2, Zharkov P.A.2, Kurnikova M.A.2, Mann S.G.2, Raykina E.V.2
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Affiliations:
- ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
- Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
- Issue: Vol 18, No 3 (2019)
- Pages: 54-61
- Section: CLINICAL OBSERVATIONS
- Submitted: 12.09.2019
- Accepted: 12.09.2019
- Published: 12.09.2019
- URL: https://hemoncim.com/jour/article/view/261
- DOI: https://doi.org/10.24287/1726-1708-2019-18-3-54-61
- ID: 261
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Abstract
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.
About the authors
Ya. A. Erdomaeva
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
ORCID iD: 0000-0002-3810-1398
Russian Federation
D. V. Fedorova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
Author for correspondence.
Email: daria.fedorova@fccho-moscow.ru
ORCID iD: 0000-0003-4567-1871
Daria V. Fedorova, MD, hematologist of Outpatient Consultative Unit
117997, Moscow, Samory Mashela st., 1
Russian FederationP. A. Zharkov
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-4384-6754
Moscow Russian Federation
M. A. Kurnikova
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0003-0900-6874
Moscow Russian Federation
S. G. Mann
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-1014-5196
Moscow Russian Federation
E. V. Raykina
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow Russian Federation
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