An Overview on Thalassemia

Thalassemia is a genetic condition inherited from the parents of an individual. With 25,000 deaths in 2013, thalassemia is prevalent globally. The highest rates are in the Mediterranean, Italy , Greece, Turkey, West Asia, North Africa, South Asia , and Southeast Asia. Alpha and beta thalassemia incidence depends on how many of the four alpha genes or two beta globin genes are absent. There are two primary forms, Thalassemia alpha and beta. The most extreme type is β-thalassemia major, and the affected children are dependent for survival on daily blood transfusions. The production of abnormal antibodies is one of the major complications in chronically transfused patients and, in this case, further transfusion of compatible red cells is difficult. Hemoglobinopaties in the globin proteins themselves suggest irregularities. Health complications are mainly observed in large and intermediate patients with thalassemia. Extreme anaemia, slow growth and skeletal defects are the signs and symptoms transplant. Prevention is by premarital screening, carrier detection and prenatal testing. Bone Marrow Transplant (BMT) is still remains the only definitive cure available for patients with Thallassemia. 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. In infancy. Eventually, untreated thalassemia leads to death, usually due to heart failure. Hematological checks, haemoglobin electrophoresis, and DNA analysis are used to make a diagnosis. Individuals with extreme thalassemia include deferoxamine, deferasirox, deferiprone, and bone marrow transplants for blood transfusion, drug therapy, i.e. Regular blood transfusions, iron chelation, splenectomy, and bone marrow are used to treat people with extreme anaemia.  In transplantation. Prevention is by premarital screening, identification of the carrier and prenatal monitoring. Marrow of bone The only definitive treatment available for patients with thallassemia remains a transplant (BMT). Gene therapy is already on trial for β-thalassemia, and there is hope for the future. Genetic experiments (DNA analysis) to study alpha- and beta-globin-producing gene deletions and mutations aid in correcting deletions and mutations.  Diagnosis and enhanced treatment of patients with thalassemia. The clinical features of thalassemia will be reviewed in this subject, focusing on pathophysiology, clinical features, complications, management, screening and diagnosis.

Author (s) Details

Dr. Dharmesh Chandra Sharma
Blood Transfusion Service, Cancer Hospital and Research Institute, Gwalior, India.

Dr. Sunita Rai
Department of Pathology, G. R. Medical College, Gwalior, India.

Dr. Prakriti Gupta
Department of Pathology, G. R. Medical College, Gwalior, India.

Dr. Sachin Singhal
Department of Pathology, G. R. Medical College, Gwalior, India.

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