thalassemier

Thalassemia is a group of inherited blood disorders characterized by reduced or absent synthesis of globin chains, which are essential components of hemoglobin. Hemoglobin is responsible for carrying oxygen from the lungs to the rest of the body. When globin chains are not produced in sufficient amounts, the body cannot produce enough functional hemoglobin, leading to anemia. This anemia can range in severity from mild to life-threatening.

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia, depending on which globin chain is affected. The severity of thalassemia depends on the specific genetic mutations inherited. Individuals inherit two copies of each globin gene, one from each parent. If a person inherits one mutated gene, they are a carrier and typically have no symptoms, known as thalassemia minor or trait. If they inherit two mutated genes, they may develop more severe forms of the condition.

Symptoms of thalassemia can include fatigue, weakness, pale skin, slow growth and development in children, and bone deformities. More severe forms often require lifelong blood transfusions to manage the anemia. Complications can include iron overload from frequent transfusions, heart problems, and infections. Diagnosis is typically made through blood tests that measure hemoglobin levels and red blood cell characteristics, often confirmed by genetic testing. Treatment strategies depend on the severity and may involve blood transfusions, iron chelation therapy to remove excess iron, and in some cases, bone marrow transplantation.