Thalassemia is an inherited disorder wherein the body doesn’t produce enough hemoglobin – a key component of the red blood cells (RBCs) that carries oxygen throughout the body. Hemoglobin contains two protein chains – alpha and beta. When either of these is not produced in enough quantity, RBCs aren’t formed properly and sufficient oxygen isn’t carried to the body. Lack of oxygen causes anemia in early childhood, which is commonly found in people with thalassemia.

Types of thalassemia
When the body produces a low level of alpha protein, the condition is called alpha thalassemia. Whereas, if the body does not produce enough beta protein, it is called beta thalassemia. According to the National Institutes of Health, it is seen that while alpha thalassemia is more common in Asia and Africa, beta thalassemia is prevalent in the Mediterranean region.

Terms such as “trait,” “minor,” “intermedia,” and “major” are used to indicate the severity of the condition. A person with thalassemia trait may not show any symptoms whereas one with thalassemia major may have severe symptoms requiring regular blood transfusions.

Causes of thalassemia
Thalassemia is a genetic condition, which occurs when the DNA in the cells making hemoglobin gets mutated. Children inherit the altered genes from their parents, leading to abnormal hemoglobin production.

Thalassemia minor occurs when only one of the parents is a carrier. If this happens, the individual may usually not have symptoms, but they will be carriers of thalassemia. However, some people with this condition may develop minor signs and symptoms.

Moreover, a child can get a severe form of thalassemia when both parents have the condition.

Signs and symptoms
Since thalassemia is an inherited disorder, symptoms can begin to show very early in life. The most common symptom of thalassemia is anemia, which gives a pallor to the skin. Anemia can lead to poor development of a child, to the extent of even delaying their puberty.

People with thalassemia may experience the following symptoms (some of which are common signs of anemia) –

• Pale skin
• Dizziness
• Shortness of breath
• Headaches
• Leg cramps
• Inability to focus
• Chronic anemia can also lead to cardiac arrest
• Deformed facial bones are a sign of thalassemia
• A severe case of thalassemia, which requires frequent blood transfusions, can also lead to renal failure

Diagnostic tests
Thalassemia is generally detected during pregnancy or right after childbirth. Some blood tests can help confirm if one is a carrier of thalassemia, which went undetected during pregnancy. Undergoing these tests becomes critical if one has a family history of thalassemia.

Healthcare providers recommend the following tests to make an initial diagnosis –

• Complete Blood Count (CBC)
  This test measures the size and quantity of RBCs and hemoglobin. Individuals with thalassemia have fewer healthy and smaller RBCs. 
• Reticulocyte count
  It will indicate whether the bone marrow produces enough RBCs. 
• Studies of iron
  These will determine whether the cause of anemia is thalassemia or iron deficiency. 
• Genetic testing
  It is used to diagnose alpha thalassemia. The gene concerned is tested for mutations.
• Hemoglobin electrophoresis
  This process analyzes hemoglobin in RBCs and helps diagnose beta thalassemia

Treatment options
The treatment depends on the severity of thalassemia. Here are some common treatment options for thalassemia –

• Blood transfusion
  Since the condition causes anemia, the essential therapy is to provide more RBCs in the blood. It is done through blood transfusion. Mostly, people with thalassemia major require regular blood transfusions, whereas those with thalassemia intermedia may require it sometimes during an infection. People with thalassemia minor or trait usually do not require blood transfusions as they may have mild or nonexistent anemia.

  However, blood transfusions also raise questions about blood safety. Getting an infection via transfusion is a common and genuine concern.

  Moreover, alongside other treatments, a person with thalassemia may be given vitamin B or folic acid, which helps develop RBCs.

• Chelation therapy
  Since blood transfusion is the last recourse, it can cause iron buildup in the body over time. This iron could collect in the heart, brain, or liver, impeding their regular functioning. To prevent this buildup, doctors give chelation therapy to remove this excess iron before it accumulates in the organs.
• Bone marrow transplant
  Another potential treatment for severe cases of thalassemia is a bone marrow transplant. It is to be done from the compatible or eligible sibling/donor. It removes the need for lifelong blood transfusions. However, this procedure may be risky and lead to complications. 

Lifestyle changes to manage thalassemia
Thalassemia is an inherited disorder that cannot be cured yet but managed. The problems related to the condition can be reduced with a healthy lifestyle and a balanced meal plan. Nutrients such as folic acid, vitamin D, and calcium along with regular exercises can help manage the condition.

For the proper diagnosis and treatment procedures, it is required to consult a thalassemia specialist.