Version 1
: Received: 23 July 2019 / Approved: 25 July 2019 / Online: 25 July 2019 (01:20:41 CEST)
How to cite:
Ali, S.; Mumtaz, S.; Shakir, H. A.; Tahir, H. M.; Mughal, T. A. Current Perspective of Beta Thalassemia and Its Treatment Strategies. Preprints2019, 2019070277. https://doi.org/10.20944/preprints201907.0277.v1
Ali, S.; Mumtaz, S.; Shakir, H. A.; Tahir, H. M.; Mughal, T. A. Current Perspective of Beta Thalassemia and Its Treatment Strategies. Preprints 2019, 2019070277. https://doi.org/10.20944/preprints201907.0277.v1
Ali, S.; Mumtaz, S.; Shakir, H. A.; Tahir, H. M.; Mughal, T. A. Current Perspective of Beta Thalassemia and Its Treatment Strategies. Preprints2019, 2019070277. https://doi.org/10.20944/preprints201907.0277.v1
APA Style
Ali, S., Mumtaz, S., Shakir, H. A., Tahir, H. M., & Mughal, T. A. (2019). Current Perspective of Beta Thalassemia and Its Treatment Strategies. Preprints. https://doi.org/10.20944/preprints201907.0277.v1
Chicago/Turabian Style
Ali, S., Hafiz Muhammad Tahir and Tafail Akbar Mughal. 2019 "Current Perspective of Beta Thalassemia and Its Treatment Strategies" Preprints. https://doi.org/10.20944/preprints201907.0277.v1
Abstract
Thalassemia is genetic blood disease cause by absence or decrease of one or more of the globin chain synthesis. Beta thalassemia is characterized by one or more mutations in beta globin gene. Absence or reduced amount the of beta globin chains cause ineffective erythropoiesis which leads to anemia. Beta thalassemia has been further divided into three main forms: Thalassemia minor/silent carrier, major and intermedia. More severe form is thalassemia major in which patients depend upon blood transfusion for survival and high level of iron occur as a consequence of consistent blood transfusion. Over loaded iron invokes the synthesis of reactive oxygen species that are toxic in redundancy and triggering the impairment to vascular, endocrine and hepatic system. Thalassemia can be diagnosed and detected through various laboratory tests such as blood smear, prenatal testing (genetic testing of amniotic fluid), DNA analysis (genetic testing) and complete blood count. Treatment of thalassemia intermedia is symptomatic but it can also be managed by splenectomy and folic supplementation. While thalassemia major can be treated by transplantation of bone marrow, regular transfusion of blood and iron chelation treatment, stimulation of fetal hemoglobin production, hematopoietic stem cell transplantation and gene therapy.
Keywords
thalassemia; iron overload; chelation therapy; gene therapy; blood transfusion
Subject
Biology and Life Sciences, Animal Science, Veterinary Science and Zoology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
