Thalassemia is a group of inherited blood disorders in which the body produces less hemoglobin than normal. Hemoglobin is the protein in red blood cells that carries oxygen from the lungs to the rest of the body. Reduced hemoglobin production can lead to anemia and other health complications.

There are two main types:

Alpha thalassemia: Caused by changes in the genes responsible for making alpha-globin chains.
Beta thalassemia: Caused by changes in the genes responsible for making beta-globin chains.

Symptoms vary depending on the severity of the condition and may include:

Fatigue and weakness
Pale or yellowish skin
Shortness of breath
Slow growth in children
Bone changes, especially in the face
Enlarged spleen
Dark urine (in some cases)

Severity ranges from:

Thalassemia trait (minor): Usually causes no symptoms or only mild anemia.
Thalassemia intermedia: Causes moderate anemia and may require occasional treatment.
Thalassemia major: A severe form that often requires regular blood transfusions and ongoing medical care.

Diagnosis may involve:

Complete blood count (CBC)
Blood smear
Hemoglobin electrophoresis or other specialized hemoglobin testing
Genetic testing to identify the specific gene changes

Treatment depends on the severity and may include:

Regular blood transfusions for severe cases
Iron chelation therapy to remove excess iron that can build up from transfusions
Folic acid supplementation in some patients
Management of complications
In selected cases, a stem cell (bone marrow) transplant, which can potentially cure the disease
Some eligible patients may also benefit from newer gene-based therapies, depending on the specific type of thalassemia and local availability

Because thalassemia is inherited, genetic counseling and carrier screening can help individuals and families understand their risk of passing the condition to their children.

With appropriate treatment and regular follow-up, many people with thalassemia can live long, active lives.