Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment
Thalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications. The complicated pathophysiology of beta-thalassemia involves genetic mutations or rarely deletions of the beta-globin...
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2024-10-01
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| author | Idris Zubairu Sadiq Fatima Sadiq Abubakar Hauwa Salisu Usman Aliyu Dantani Abdullahi Bashiru Ibrahim Babangida Sanusi Kastayal Maryam Ibrahim Hassan Aliyu Hassan |
| author_facet | Idris Zubairu Sadiq Fatima Sadiq Abubakar Hauwa Salisu Usman Aliyu Dantani Abdullahi Bashiru Ibrahim Babangida Sanusi Kastayal Maryam Ibrahim Hassan Aliyu Hassan |
| author_sort | Idris Zubairu Sadiq |
| collection | DOAJ |
| description | Thalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications. The complicated pathophysiology of beta-thalassemia involves genetic mutations or rarely deletions of the beta-globin gene on chromosome 11 whereas alpha-thalassemia involves deletions in the HBA1 and HBA2 genes or occasionally alterations to the DNA sequence in or around these genes. These mutation and deletion effects disrupt the balance of α/β-globin chain production, resulting in ineffective erythropoiesis, hemolysis, and a cascade of clinical manifestations including anemia, bone deformities, and iron overload. Advances in diagnostic techniques have enhanced our ability to detect and characterize these mutations, facilitating early and accurate diagnoses. Current management strategies encompass regular blood transfusions, the use of hydroxyurea to improve hemoglobin levels, and iron chelation therapy to prevent iron-related organ damage. Moreover, other therapeutics such as thalidomide for those not responding to hydroxyurea, Sirolimus for patients with immunodeficiencies, and use of vitamin E as an antioxidant have proven to be effective. Innovative therapies such as gene therapy and bone marrow transplantation offer promising curative potential, opening a new era in the treatment of thalassemia. This review focuses on pathophysiological mechanisms underlying thalassemia, explores the diagnostic methodologies, and highlights recent advancements in therapeutic approaches. |
| format | Article |
| id | doaj-art-bbe13204d8774bb79da4fc70c6aa9040 |
| institution | DOAJ |
| issn | 2039-4365 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Thalassemia Reports |
| spelling | doaj-art-bbe13204d8774bb79da4fc70c6aa90402025-08-20T02:43:41ZengMDPI AGThalassemia Reports2039-43652024-10-011448110210.3390/thalassrep14040010Thalassemia: Pathophysiology, Diagnosis, and Advances in TreatmentIdris Zubairu Sadiq0Fatima Sadiq Abubakar1Hauwa Salisu Usman2Aliyu Dantani Abdullahi3Bashiru Ibrahim4Babangida Sanusi Kastayal5Maryam Ibrahim6Hassan Aliyu Hassan7Department of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry, Ahmadu Bello University, Zaria P.M.B. 1044, Kaduna State, NigeriaDepartment of Biochemistry and Molecular Biology, Faculty of Life Sciences, Federal University, Dutsin-Ma P.M.B. 5001, Katsina State, NigeriaDepartment of Biochemistry, Faculty of Science, Federal University Dutse, Dutse P.M.B. 7156, Jigawa State, NigeriaThalassemia represents a diverse group of inherited hematological disorders characterized by defective globin chain synthesis, leading to chronic anemia and associated complications. The complicated pathophysiology of beta-thalassemia involves genetic mutations or rarely deletions of the beta-globin gene on chromosome 11 whereas alpha-thalassemia involves deletions in the HBA1 and HBA2 genes or occasionally alterations to the DNA sequence in or around these genes. These mutation and deletion effects disrupt the balance of α/β-globin chain production, resulting in ineffective erythropoiesis, hemolysis, and a cascade of clinical manifestations including anemia, bone deformities, and iron overload. Advances in diagnostic techniques have enhanced our ability to detect and characterize these mutations, facilitating early and accurate diagnoses. Current management strategies encompass regular blood transfusions, the use of hydroxyurea to improve hemoglobin levels, and iron chelation therapy to prevent iron-related organ damage. Moreover, other therapeutics such as thalidomide for those not responding to hydroxyurea, Sirolimus for patients with immunodeficiencies, and use of vitamin E as an antioxidant have proven to be effective. Innovative therapies such as gene therapy and bone marrow transplantation offer promising curative potential, opening a new era in the treatment of thalassemia. This review focuses on pathophysiological mechanisms underlying thalassemia, explores the diagnostic methodologies, and highlights recent advancements in therapeutic approaches.https://www.mdpi.com/2039-4365/14/4/10thalassemiahemoglobinopathiespathophysiologydiagnosistreatments |
| spellingShingle | Idris Zubairu Sadiq Fatima Sadiq Abubakar Hauwa Salisu Usman Aliyu Dantani Abdullahi Bashiru Ibrahim Babangida Sanusi Kastayal Maryam Ibrahim Hassan Aliyu Hassan Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment Thalassemia Reports thalassemia hemoglobinopathies pathophysiology diagnosis treatments |
| title | Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment |
| title_full | Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment |
| title_fullStr | Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment |
| title_full_unstemmed | Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment |
| title_short | Thalassemia: Pathophysiology, Diagnosis, and Advances in Treatment |
| title_sort | thalassemia pathophysiology diagnosis and advances in treatment |
| topic | thalassemia hemoglobinopathies pathophysiology diagnosis treatments |
| url | https://www.mdpi.com/2039-4365/14/4/10 |
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