Thalassemia

Thalassemia: A Genetic Blood Disorder

The genetic blood condition known as thalassaemia compromises the body's haemoglobin production, the protein found in red blood cells in charge of oxygen carrying. Anaemia brought on by this disorder causes youngsters to feel tired, weak, and pale, as well as to have retarded development.

Based on whatever component of the haemoglobin molecule is compromised, thalassaemia is categorised as either alpha or beta type. The most severe form is beta thalassaemia major (Cooley's anaemia), which calls for strict medical control and consistent blood transfusions. Like thalassaemia minor, milder versions could have either minimal or no symptoms.

Blood tests—including haemoglobin electrophoresis and a full blood count (CBC)—help to diagnose the disorder. A specific mutation causing thalassaemia can be verified by genetic testing.

Treatment varies in degree depending on the condition's severity. While severe cases necessitate frequent blood transfusions, iron chelation treatment to prevent iron overload, and, in some circumstances, bone marrow transplants for a possible cure, mild cases might not call for intervention.

Given thalassaemia is hereditary, at-risk families must undergo prenatal screening and genetic counselling. Maintaining a healthy lifestyle and consistent medical visits helps control symptoms and raise quality of life.