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Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome
| Content Provider | SAGE Publishing |
|---|---|
| Author | Kewan, Tariq Noss, Ryan Godley, Lucy A. Rogers, Heesun J. Carraway, Hetty E. |
| Copyright Year | 2020 |
| Abstract | Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum. |
| Related Links | https://journals.sagepub.com/doi/pdf/10.1177/2324709620938941?download=true |
| ISSN | 23247096 |
| Volume Number | 8 |
| Journal | Journal of Investigative Medicine High Impact Case Reports (HIC) |
| e-ISSN | 23247096 |
| DOI | 10.1177/2324709620938941 |
| Language | English |
| Publisher | Sage Publications CA |
| Publisher Date | 2020-07-03 |
| Publisher Place | Los Angeles |
| Access Restriction | Open |
| Rights Holder | © 2020 American Federation for Medical Research |
| Subject Keyword | thrombocytopenia 2 acute leukemia myelodysplastic syndrome germline mutations ANKRD26 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Safety Research Safety, Risk, Reliability and Quality Epidemiology |
