• The Effect of the Frequency of Hereditary Thrombocytopenia and Its Modulating Factors on Bone Marrow
  • Mahsan Azimi Dizaj,1 Ali Ahmadi,2,* Dariush D. Farhud,3
    1. MSc. Student, Department of Genetics, Islamic Azad University Tabriz Branch, Tabriz, Iran
    2. BSc. Student, Department of Biological Sciences and Technologies, Islamic Azad University Sari Branch, Sari, Iran
    3. School of Public Health, Tehran University of Medical Sciences, Tehran, Iran


  • Introduction: Hereditary thrombocytopenia (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often present as hemorrhagic diathesis, which in turn leads to impaired homeostasis. Hereditary thrombocytopenia (IT) includes a group It is an inherited disorder characterized by a decrease in platelet count as the main feature and often with abnormal platelet function, which in turn can lead to impaired homeostasis. Hereditary thrombocytopenia is caused by genetic mutations in genes involved in the differentiation of megakaryocytes and/or platelet formation and clearance. Protect the integrity of blood vessels. They play an important role in normal homeostasis to prevent excessive bleeding at the site of blood vessel damage. Causes of secondary or reactive thrombocytosis include reactive responses to systemic infection, chronic inflammatory conditions, hypovolaemia, malignancy, iron deficiency, bleeding, surgery, and trauma. False platelet counts can also occur when other cellular factors, including microspherocytes, schistocytes, or infectious organisms, are mistaken for platelets. This study aimed to determine the frequency of hereditary thrombocytopenia and its modulating factors on bone marrow.
  • Methods: This research is an initial observational study, an experimental study with an intervention approach that in 2022 by searching for keywords such as Thrombocytopenias, Heterogeneous, Megakaryocyte, Bone Marrow, Thrombopoietin gene in the MeSH database and reputable databases such as Science Direct, Pub Med and Science Direct were performed. Finally, 15 articles were extracted and 10 of them were included in the study.
  • Results: According to studies from the articles, the results are that the inherited pattern of IT disease was first discovered in a disorder called Bernardsulie Syndrome (BSS). Since then, advances in clinical and scientific research have led to an increase in patients' understanding of molecular defects. Has been affected by IT. They appear in women with various symptoms including epistaxis, mild bruising, petechiae, prolonged bleeding from the incision, bleeding gums, excessive postoperative bleeding, hematuria, and menorrhagia. Since bleeding is considered to be the main clinical complication for patients with IT, some patients with common IT tend to develop other disorders such as blood malignancies and kidney failure. Although there are other causes for thrombocytopenia. Like infections and immune disorders, IT is mainly caused by mutations in genes involved in megakaryocyte differentiation, maturation, and platelet release. To date, 40 genes and their mutations have been implicated in many different forms of inherited thrombocytopenia. The human THPO gene contains seven exons and six introns. With a location of more than 6 KB. The THPO gene encodes a humoral growth factor (332 amino acids with a molecular mass of ~ 70 kDa) that exerts profound stimulatory effects on megakaryopoiesis and thrombosis.
  • Conclusion: The process of megakaryopoiesis and thrombosis involves a series of complex biological events. Megakaryocytes, like all blood cells, are derived from hematopoietic stem cells (HSCs) in the bone marrow during the lineage commitment process. The process of hematopoietic stem cell differentiation involves committed precursors, including common myeloid precursor (CMP) and megakaryocyte-erythroid precursor (MEP).
  • Keywords: Thrombocytopenias ، Heterogeneous ، Megakaryocyte ، Bone Marrow ، Thrombopoietin gene