betathalassæmi

Betathalassæmia is a genetic blood disorder characterized by reduced or absent production of beta-globin chains, a component of hemoglobin. Hemoglobin is the protein in red blood cells responsible for carrying oxygen from the lungs to the rest of the body. This deficiency leads to an ineffective production of red blood cells and severe anemia.

The disorder is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and typically do not experience symptoms, though they can pass the gene to their children.

The severity of betathalassæmia varies depending on the specific mutations inherited. Betathalassæmia major, the most severe form, requires lifelong blood transfusions to manage the anemia and prevent life-threatening complications. Other forms, such as betathalassæmia intermedia, may have less severe symptoms and may not require regular transfusions.

Symptoms of betathalassæmia typically appear in infancy or early childhood and can include severe anemia, fatigue, weakness, pale skin, poor growth, and bone deformities. Over time, untreated or inadequately treated betathalassæmia can lead to iron overload from transfusions, heart problems, liver damage, and other organ complications.

Diagnosis is usually made through blood tests that measure hemoglobin levels and red blood cell indices, followed by genetic testing to identify specific mutations. Treatment options include regular blood transfusions, iron chelation therapy to remove excess iron, and in some cases, hematopoietic stem cell transplantation.