Thalassemia: Signs, Symptoms and Types

Thalassemia is an inherited blood disorder that is passed from parents to their children and affects the body's ability to produce normal haemoglobin. It occurs when there is an abnormality or mutation in one of the genes involved in haemoglobin production. Haemoglobin is the protein molecule that enables red blood cells to carry oxygen throughout the body. People with thalassemia produce fewer healthy haemoglobin, i.e. RBCs lasts for a shorter period of time, resulting in inadequate healthy red blood cells travelling in the bloodstream. As there are lesser healthy red blood cells, enough oxygen is not delivered to the rest of the cells in the body. This may cause fatigue, weakness, and shortness of breath. This condition is known as anaemia. People suffering with thalassemia may have mild or severe anaemia as well. Severe anaemia may damage organs and might be life threatening.

 

What are the Types of Thalassemia?

 

Thalassemia is mainly differentiated into the following two types:

 

Alpha Thalassemia: This disorder arises when one or more genes associated with the alpha-globin protein are either changed or missing.

 

Beta Thalassemia: This develops when similar genetic impairments affect the manufacture of the beta-globin protein.

 

Both forms of thalassemia can be further classified into the following two subtypes:

 

Thalassemia Major: It develops when an individual inherits the impaired gene from both parents. This type is also known as Cooley's anaemia. Beta thalassemia major is the most severe form of this disorder.

 

Thalassemia Minor: This arises when a person gets the impaired gene from only one parent. People with thalassemia minor are carriers of the condition and generally do not experience any signs and 
symptoms. Thalassemia minor is a less severe type of this disorder.

 

What are the Signs and Symptoms of Thalassemia?

 

There are different types of thalassemia, which may vary from a mild condition with no symptoms to a serious or life-threatening condition. The various signs and symptoms of thalassemia depend on the type and severity of the condition.

 

Some common signs and symptoms can include:

 

• Anaemia - Severe tiredness and fatigue, weakness, shortness of breath, fluttering or irregular heartbeats, and yellow or pale skin caused by the lack of haemoglobin in the body.
• Too much iron in the body - Normally caused by the regular blood transfusions used in treatment for anaemia and can cause liver, heart, and hormone levels problems if untreated.
• Facial bone deformities
• Slow growth and development
• Dark urine
• Abdominal swelling

 

Not everyone with thalassemia shows visible symptoms. Less severe types may not be noticeable until later in childhood or even until adulthood. In some cases, people who have only one affected haemoglobin gene don't have any symptoms.

 

What are the Treatment Options for Thalassemia?

 

Treatment options for thalassemia depend on the type and severity of the disease involved. People with mild thalassemia might not need any treatment. However, people with thalassaemia major or other serious types will need specialist care throughout their lives. Standard treatments for patients with thalassemia major include:

 

Blood Transfusion: It involves the injection of red blood cells to restore normal levels of healthy haemoglobin and red blood cells. In some severe cases, a blood transfusion may be required at least once a month.

 

Iron Chelation: It is the removal of excess iron from the bloodstream caused by frequent blood transfusions.

 

Nutritional Supplements: Folic acid supplements and close monitoring of B12 levels are critical, as these nutrients are the key components of healthy blood cell production.

 

Bone Marrow and Stem Cell Transplant: Transplant of bone marrow and stem cells from a compatible related donor can be the only effective treatment in severe cases of thalassemia.

 

Surgery: This may be done to correct bone abnormalities.

 

Note: These are just suggestions, always consult a doctor before going for any test and treatment.

 

Sources:
https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995
https://www.healthline.com/health/thalassemia
https://www.nhs.uk/conditions/thalassaemia/