An Overview on Thalassemia

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 severity of alpha and beta
thalassemia depends on how many of four genes for alpha or two genes for beta globin are missing.
There are two main types, alpha and beta Thalassemia. 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. Hemoglobinopaties 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 is made 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. Treatment of Individuals with
severe anemia is via regular blood transfusion, iron chelation, splenectomy, and bone marrow
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.