talasszémia

Talasszémia, also known as thalassemia, is a group of inherited blood disorders characterized by abnormal hemoglobin production. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In individuals with thalassemia, the production of one or more parts of hemoglobin is impaired, leading to anemia and other complications.

The disorder is classified into two main types based on which part of the hemoglobin molecule is affected: alpha-thalassemia and beta-thalassemia. Alpha-thalassemia results from mutations or deletions in the genes responsible for producing alpha-globin chains, while beta-thalassemia arises from mutations in the genes encoding beta-globin chains. The severity of the condition varies depending on the specific genetic mutation and the number of affected genes.

Symptoms of thalassemia typically include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, and dark urine. Severe cases may require regular blood transfusions to maintain adequate hemoglobin levels, which can lead to iron overload over time. This excess iron can damage organs such as the heart, liver, and endocrine glands, necessitating treatments like chelation therapy to remove the excess iron from the body.

Diagnosis involves blood tests, including complete blood counts, hemoglobin electrophoresis, and genetic testing. Prenatal testing is also available for couples at risk of passing on the thalassemia gene. Management often includes a combination of blood transfusions, iron chelation therapy, folic acid supplementation, and, in some cases, bone marrow transplantation for severe or life-threatening cases.

Thalassemia is most common in populations originating from Mediterranean regions, Southeast Asia, Africa, and the Middle East, where carriers of the thalassemia gene are relatively frequent. Genetic counseling is recommended for individuals with a family history of the disorder to assess the risk of inheritance and discuss preventive measures. Advances in medical research continue to improve the diagnosis, treatment, and quality of life for individuals living with thalassemia.