Thalassämien

Thalassaemia is a group of inherited blood disorders characterized by reduced or absent synthesis of hemoglobin, the protein in red blood cells that carries oxygen. Hemoglobin is composed of globin chains, and thalassaemias arise from mutations in the genes that control the production of these chains. There are two main types: alpha-thalassaemia and beta-thalassaemia, named after the globin chains affected.

Alpha-thalassaemia occurs when there is a deficiency in the production of alpha-globin chains. The severity of alpha-thalassaemia varies depending on the number of affected genes, ranging from asymptomatic carriers to hydrops fetalis, a severe and often fatal condition. Beta-thalassaemia results from reduced or absent production of beta-globin chains. This leads to an imbalance in globin chain production, causing ineffective red blood cell production and premature destruction of red blood cells, a condition known as haemolytic anaemia.

The clinical manifestations of thalassaemia can range from mild anaemia to severe, life-threatening illness requiring regular blood transfusions and other medical interventions. Symptoms can include fatigue, weakness, pale skin, and in more severe cases, jaundice, enlarged spleen and liver, and bone deformities. Diagnosis is typically made through blood tests, including a complete blood count and haemoglobin electrophoresis, and genetic testing can confirm the specific mutation. Management strategies depend on the severity of the condition and may involve blood transfusions, iron chelation therapy to remove excess iron from blood transfusions, and in some cases, bone marrow transplantation.