• Dharmesh Chandra Sharma Associate Blood Transfusion Officer (ABTO), Incharge Component & Aphaeresis Unit, Blood Bank, G. R. Medical College, Gwalior. India
  • Anita Arya Medical Officer, Blood Bank, G. R. Medical College, Gwalior
  • Purnima Kishor Department of Biochemistry, Jiwaji University, Gwalior
  • Poonam Woike Resident, Department of Pathology, G. R. Medical College, Gwalior
  • Jyoti Bindal Professor and HOD, Department of Obstetrics & Gynecology, G. R. Medical College, Gwalior
Keywords: Thalassemia, Hemoglobinopathies, Bone Marrow Transplant, Gene Therapy


Thalassemia’s are genetic disorders inherited from a person’s parents. Thalassemia’s are prevalent worldwide with 25,000 deaths in 2013.Highest rates are in the Mediterranean, Italy, Greece, Turkey, West Asia, North Africa, South Asian, and Southeast Asia. The β-thalassemia major is the most severe form and the affected children are dependent on regular blood transfusions for survival. One of the major complications in chronically transfused patients is development of irregular antibodies and in this situation; further transfusion of compatible red cell is difficult. Hemoglobinopathies imply abnormalities in the globin proteins themselves. Health complications are mostly found in thalassemia major and intermediate patients. Signs and symptoms include severe anemia, poor growth and skeletal abnormalities during infancy. Untreated thalassemia major eventually leads to death, usually by heart failure. Diagnosis by hematologic tests, hemoglobin electrophoresis, and DNA analysis. Individuals with severe thalassemia require blood transfusion, drug therapy i.e. deferoxamine, deferasirox, deferiprone, and bone marrow transplant. Bone Marrow Transplant (BMT) is still remains the only definitive cure available for patients with Thalassemia. Gene therapy for β- Thalassemia is still on trial and a hope for future. Genetic studies (DNA analysis) to investigate deletions and mutations in the alpha- and beta-globin-producing gene help in correct diagnosis and improved management in thalassemic patients. This topic will review the clinical features of thalassemia while focusing on pathophysiology, clinical features, complication, management, screening and diagnosis.


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How to Cite
Dharmesh Chandra Sharma, Anita Arya, Purnima Kishor, Poonam Woike, Jyoti Bindal. OVERVIEW ON THALASSEMIAS: A REVIEW ARTICLE. Med. res. chronicles [Internet]. 2017Jun.30 [cited 2024May20];4(03):325-37. Available from: https://medrech.com/index.php/medrech/article/view/247
Review Article