Thalassemia is a hereditary disorder that affects blood cells and is classified as a blood disease. In individuals with thalassemia, the body is unable to produce normal hemoglobin, the protein responsible for transporting oxygen and nutrients to cells and removing waste and carbon dioxide. This impairment negatively impacts the function of various organs.

Thalassemia, also known as Mediterranean Anemia, is a life-threatening disease that can cause serious complications if not properly managed or treated, earning it the nickname “the deadly anemia.”

Hemoglobin consists of four protein chains—two alpha and two beta. Based on the location of the genetic defect, thalassemia is classified into two main types:

Types of Thalassemia:

-         Alpha Thalassemia:
Caused by a genetic defect in the alpha chains of hemoglobin. Some forms of alpha thalassemia can be severe enough to cause fetal death in the womb or shortly after birth.

-         Beta Thalassemia:
Caused by a genetic defect in the beta chains of hemoglobin. It is generally less severe, except for the major form known as Beta Thalassemia Major or Cooley’s Anemia, which can be life-threatening.

Causes of Thalassemia:
Thalassemia is primarily caused by genetic inheritance. It results from a mutation in the genes responsible for producing the alpha or beta protein chains of hemoglobin. For an individual to develop thalassemia, they must inherit the defective gene(s) from both parents.

Risk factors that increase the likelihood of developing thalassemia include:

-         Family history: The disease is passed from parents to children through mutated hemoglobin genes.

-         Ethnicity: Thalassemia is more prevalent among people of African, Mediterranean, or Southeast Asian descent.

Symptoms of Thalassemia

The symptoms vary depending on the severity of the disease:

-         Carriers (Thalassemia Trait):
Usually asymptomatic but capable of passing the condition to their offspring.

-         Mild cases:
May show signs of mild anemia and iron deficiency, such as paleness and fatigue.

-         Moderate cases:
Present with moderate anemia symptoms in addition to enlarged spleen, delayed growth, and bone disorders.

-         Severe cases (especially Beta Thalassemia Major or Cooley’s Anemia):
Symptoms typically appear within the first two years of life and may include:

1.       Pale skin

2.       Poor appetite

3.       Dark-colored urine (due to red blood cell breakdown)

4.       Delayed growth and puberty

5.       Jaundice (yellowing of the skin or whites of the eyes)

6.       Enlarged spleen, liver, or heart

7.       Bone deformities, especially in the face and skull

In newborns with beta thalassemia, symptoms may not appear until several months after birth. In less severe types, symptoms may not be evident until later in childhood or adolescence.

Possible Complications of Moderate to Severe Thalassemia:

-         Iron overload:
Patients may accumulate excess iron due to frequent blood transfusions or the disease itself. This can damage the heart, liver, and endocrine system (responsible for hormone regulation).

-         Infections:
Thalassemia patients, especially those who have had their spleen removed, are more susceptible to infections.

In severe cases, additional complications may include:

-         Bone deformities:
Bone marrow expansion can lead to abnormally shaped bones, particularly in the face and skull. It also causes thinning and fragility in bones, increasing fracture risk.

-         Splenomegaly (enlarged spleen):
The spleen filters damaged blood cells. In thalassemia, excessive red blood cell destruction burdens the spleen, causing it to enlarge and function excessively. This can worsen anemia and shorten the lifespan of transfused blood cells. In such cases, surgical removal of the spleen may be recommended.

Tips for Living with Thalassemia and Preventing Complications:

-         Regular medical follow-up for patients and carriers is essential, especially adherence to transfusion schedules and prescribed treatments.

-         Routine blood tests and iron level monitoring are advised every 3 months.

-         Annual check-ups of heart, liver, kidney, respiratory, eye, and ear functions are recommended.

-         Yearly screening for viral infections such as hepatitis and HIV is important.

-         Take folic acid supplements as prescribed by the physician.

-         Patients can engage in daily activities and hobbies normally.

-         Maintain open communication with family and friends.

-         Practice good personal hygiene to prevent infections.

-         Seek immediate medical attention at the first sign of infection, such as sudden high fever.

-         Receive all recommended vaccinations, especially the annual flu vaccine.

Preventing the Birth of Children with Thalassemia:

-         Avoid consanguineous marriages, particularly among families with a history of thalassemia.

-         Avoid marriages between two carriers or a carrier and an affected individual.

-         While marriage between a healthy individual and a carrier is possible, it is generally not recommended.