Inherited thrombocytopenias—recent advances in clinical and molecular aspects
Since the beginning of the century, our knowledge of inherited thrombocytopenias greatly advanced, and we presently know 30 forms with well-defined genetic defects. This great advancement changed our view of these disorders, as we realized that most patients have only mild thrombocytopenia with inco...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2017-01-01
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| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.3109/09537104.2016.1171835 |
| _version_ | 1797684339491733504 |
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| author | Carlo L. Balduini Federica Melazzini Alessandro Pecci |
| author_facet | Carlo L. Balduini Federica Melazzini Alessandro Pecci |
| author_sort | Carlo L. Balduini |
| collection | DOAJ |
| description | Since the beginning of the century, our knowledge of inherited thrombocytopenias greatly advanced, and we presently know 30 forms with well-defined genetic defects. This great advancement changed our view of these disorders, as we realized that most patients have only mild thrombocytopenia with inconspicuous bleeding or no bleeding tendency at all. However, better knowledge of inherited thrombocytopenias also revealed that some of the most prevalent forms expose to the risk of acquiring during infancy or adulthood additional disorders that endanger the life of patients much more than hemorrhages. Thus, inherited thrombocytopenias are complex disorders with quite different clinical features and prognosis. Identification of novel genes whose mutations result in low platelet count greatly advanced also our knowledge of the megakaryocyte biology and proved beyond any doubt that the defective proteins play an essential role in platelet biogenesis or survival in humans. Based on the study of inherited thrombocytopenias, we better understood the sequence of molecular events regulating megakaryocyte differentiation, maturation, and platelet release. Since nearly 50% of patients have as yet unidentified genetic or molecular mechanisms underlying their inherited thrombocytopenia, further studies are expected to reveal new clinical entities and new molecular mechanisms of platelet production. |
| first_indexed | 2024-03-12T00:28:17Z |
| format | Article |
| id | doaj.art-8a9df87a21e54a1da925ce6806dba367 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:28:17Z |
| publishDate | 2017-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-8a9df87a21e54a1da925ce6806dba3672023-09-15T10:26:28ZengTaylor & Francis GroupPlatelets0953-71041369-16352017-01-0128131310.3109/09537104.2016.11718351171835Inherited thrombocytopenias—recent advances in clinical and molecular aspectsCarlo L. Balduini0Federica Melazzini1Alessandro Pecci2IRCCS Policlinico San Matteo Foundation - University of PaviaIRCCS Policlinico San Matteo Foundation - University of PaviaIRCCS Policlinico San Matteo Foundation - University of PaviaSince the beginning of the century, our knowledge of inherited thrombocytopenias greatly advanced, and we presently know 30 forms with well-defined genetic defects. This great advancement changed our view of these disorders, as we realized that most patients have only mild thrombocytopenia with inconspicuous bleeding or no bleeding tendency at all. However, better knowledge of inherited thrombocytopenias also revealed that some of the most prevalent forms expose to the risk of acquiring during infancy or adulthood additional disorders that endanger the life of patients much more than hemorrhages. Thus, inherited thrombocytopenias are complex disorders with quite different clinical features and prognosis. Identification of novel genes whose mutations result in low platelet count greatly advanced also our knowledge of the megakaryocyte biology and proved beyond any doubt that the defective proteins play an essential role in platelet biogenesis or survival in humans. Based on the study of inherited thrombocytopenias, we better understood the sequence of molecular events regulating megakaryocyte differentiation, maturation, and platelet release. Since nearly 50% of patients have as yet unidentified genetic or molecular mechanisms underlying their inherited thrombocytopenia, further studies are expected to reveal new clinical entities and new molecular mechanisms of platelet production.http://dx.doi.org/10.3109/09537104.2016.1171835bleedinginherited thrombocytopeniasmegakaryocytesplatelets |
| spellingShingle | Carlo L. Balduini Federica Melazzini Alessandro Pecci Inherited thrombocytopenias—recent advances in clinical and molecular aspects Platelets bleeding inherited thrombocytopenias megakaryocytes platelets |
| title | Inherited thrombocytopenias—recent advances in clinical and molecular aspects |
| title_full | Inherited thrombocytopenias—recent advances in clinical and molecular aspects |
| title_fullStr | Inherited thrombocytopenias—recent advances in clinical and molecular aspects |
| title_full_unstemmed | Inherited thrombocytopenias—recent advances in clinical and molecular aspects |
| title_short | Inherited thrombocytopenias—recent advances in clinical and molecular aspects |
| title_sort | inherited thrombocytopenias recent advances in clinical and molecular aspects |
| topic | bleeding inherited thrombocytopenias megakaryocytes platelets |
| url | http://dx.doi.org/10.3109/09537104.2016.1171835 |
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