Literature DB >> 10664620

Inherited giant platelet disorders. Classification and literature review.

P Mhawech1, A Saleem.   

Abstract

Inherited giant platelet disorders are extremely rare. The aim of this article is to review the clinical and laboratory features of this heterogeneous group and to arrive at a working classification. We conducted our literature search using the National Library of Medicine database. A total of 12 clinical entities were described. We classified them into 4 groups depending on the clinical and structural abnormalities. The pathophysiology of these disorders is largely unknown, and more research is needed, particularly in the light of recent advances in laboratory medicine. This review may provide a valuable reference for clinicians and may form a basis for future classification and research.

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Year:  2000        PMID: 10664620     DOI: 10.1309/FC4H-LM5V-VCW8-DNJU

Source DB:  PubMed          Journal:  Am J Clin Pathol        ISSN: 0002-9173            Impact factor:   2.493


  17 in total

1.  Complicated lower extremity wound caused by immune thrombocytopenic purpura leading to hypercoagulable state: a team approach for limb salvage.

Authors:  Richard Simman; John Haluschak; Sarah Jackson
Journal:  J Am Col Certif Wound Spec       Date:  2010-09-09

2.  Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Authors:  K E Heath; A Campos-Barros; A Toren; G Rozenfeld-Granot; L E Carlsson; J Savige; J C Denison; M C Gregory; J G White; D F Barker; A Greinacher; C J Epstein; M J Glucksman; J A Martignetti
Journal:  Am J Hum Genet       Date:  2001-10-04       Impact factor: 11.025

3.  Diagnosis and Management of Inherited Platelet Disorders.

Authors:  Carl Maximilian Kirchmaier; Daniele Pillitteri
Journal:  Transfus Med Hemother       Date:  2010-09-15       Impact factor: 3.747

4.  Macrothrombocytopenia in north India: role of automated platelet data in the detection of an under diagnosed entity.

Authors:  Naveen Kakkar; M Joseph John; Amrith Mathew
Journal:  Indian J Hematol Blood Transfus       Date:  2014-04-02       Impact factor: 0.900

5.  The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.

Authors:  Thomas H Chase; Bonnie L Lyons; Roderick T Bronson; Oded Foreman; Leah Rae Donahue; Lisa M Burzenski; Bruce Gott; Priscilla Lane; Belinda Harris; Uta Ceglarek; Joachim Thiery; Henning Wittenburg; Jonathan N Thon; Joseph E Italiano; Kenneth R Johnson; Leonard D Shultz
Journal:  Blood       Date:  2009-10-21       Impact factor: 22.113

6.  Platelet biogenesis and functions require correct protein O-glycosylation.

Authors:  Yingchun Wang; Shawn M Jobe; Xiaokun Ding; Hyojung Choo; David R Archer; Rongjuan Mi; Tongzhong Ju; Richard D Cummings
Journal:  Proc Natl Acad Sci U S A       Date:  2012-09-17       Impact factor: 11.205

7.  Platelet size and density affect shear-induced thrombus formation in tortuous arterioles.

Authors:  Jennifer K W Chesnutt; Hai-Chao Han
Journal:  Phys Biol       Date:  2013-08-23       Impact factor: 2.583

8.  Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).

Authors:  Sudhamsh Reddy Desai; Anu Korula; Uday Prakash Kulkarni; Aswathy Ashok Menon; Shaji V Ramachandran; Eunice Sindhuvi; Arun Jose Nellickal; Sukesh C Nair; Biju George
Journal:  Indian J Hematol Blood Transfus       Date:  2020-10-22       Impact factor: 0.900

9.  Regional Anaesthesia in Harris Platelet Syndrome for Transurethral Resection of Prostate-A Clinical Conundrum or Certitude?

Authors:  Soma Ganesh Raja Neethirajan; Aishwarya Ramesh; Aruna Parameswari
Journal:  Turk J Anaesthesiol Reanim       Date:  2020-05-05

10.  Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Authors:  Zihni Onur Çalışkaner; Abdullah Abdul Waheed; Merve Tuzlakoğlu Öztürk; Yeşim Oymak; Uygar Halis Tazebay; Nejat Akar; Ayten Kandilci; Didem Torun Özkan
Journal:  Turk J Med Sci       Date:  2021-04-30       Impact factor: 0.973

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