Literature DB >> 23677566

[Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].

R Ventz1, M Hundemer, M Witzens-Harig, B Lehmann, U Felbor, J Najm.   

Abstract

A 62-year-old woman presented with severe, isolated thrombocytopenia. Due to the positive family history and normal thrombocyte morphology ANKRD26-associated thrombocytopenia 2 (THC2) was suspected. The diagnosis was confirmed by DNA sequencing. Although this is the first case report on THC2 in Germany, we anticipate that THC2 might be a frequent cause of hereditary thrombocytopenia. A specific therapy was not necessary, but would consist of platelet supplementation.

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Mesh：

Year:  2013        PMID： 23677566     DOI： 10.1007/s00108-013-3284-x

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN： 0020-9554            Impact factor:   0.743


  6 in total

1.  A POTEntial new gene for thrombocytopenia.

Authors:  Amy E Geddis
Journal:  Blood       Date:  2011-06-16       Impact factor: 22.113

Review 2.  Inherited thrombocytopenias: the evolving spectrum.

Authors:  C L Balduini; A Pecci; P Noris
Journal:  Hamostaseologie       Date:  2012-09-13       Impact factor: 1.778

Review 3.  Inherited thrombocytopenia: when a low platelet count does not mean ITP.

Authors:  Jonathan G Drachman
Journal:  Blood       Date:  2003-09-22       Impact factor: 22.113

4.  Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Authors:  Tommaso Pippucci; Anna Savoia; Silverio Perrotta; Núria Pujol-Moix; Patrizia Noris; Giovanni Castegnaro; Alessandro Pecci; Chiara Gnan; Francesca Punzo; Caterina Marconi; Samuele Gherardi; Giuseppe Loffredo; Daniela De Rocco; Saverio Scianguetta; Serena Barozzi; Pamela Magini; Valeria Bozzi; Luca Dezzani; Mariateresa Di Stazio; Marcella Ferraro; Giovanni Perini; Marco Seri; Carlo L Balduini
Journal:  Am J Hum Genet       Date:  2011-01-07       Impact factor: 11.025

5.  Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Authors:  Patrizia Noris; Silverio Perrotta; Marco Seri; Alessandro Pecci; Chiara Gnan; Giuseppe Loffredo; Nuria Pujol-Moix; Marco Zecca; Francesca Scognamiglio; Daniela De Rocco; Francesca Punzo; Federica Melazzini; Saverio Scianguetta; Maddalena Casale; Caterina Marconi; Tommaso Pippucci; Giovanni Amendola; Lucia D Notarangelo; Catherine Klersy; Elisa Civaschi; Carlo L Balduini; Anna Savoia
Journal:  Blood       Date:  2011-04-05       Impact factor: 22.113

6.  Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.

Authors:  Patrizia Noris; Alessandro Pecci; Filomena Di Bari; Maria Teresa Di Stazio; Michele Di Pumpo; Iride F Ceresa; Nicoletta Arezzi; Chiara Ambaglio; Anna Savoia; Carlo L Balduini
Journal:  Haematologica       Date:  2004-10       Impact factor: 9.941
  6 in total
  3 in total

1.  Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.

Authors:  Tariq Kewan; Ryan Noss; Lucy A Godley; Heesun J Rogers; Hetty E Carraway
Journal:  J Investig Med High Impact Case Rep       Date:  2020 Jan-Dec

2.  A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.

Authors:  Chengning Tan; Limeng Dai; Zhengqiong Chen; Wuchen Yang; Yali Wang; Cheng Zeng; Zheng Xiang; Xiaojie Wang; Xiaomei Zhang; Qian Ran; Hong Guo; Zhongjun Li; Li Chen
Journal:  Front Genet       Date:  2020-04-15       Impact factor: 4.599

Review 3.  Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.

Authors:  Hrushikesh Vyas; Ahmad Alcheikh; Gillian Lowe; William S Stevenson; Neil V Morgan; David J Rabbolini
Journal:  Platelets       Date:  2022-05-19       Impact factor: 4.236
  3 in total

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