Thalassemia Symptoms

Hemoglobin is the red blood cell protein that carries oxygen. Disorder of the hemoglobin causes destruction of the red blood cells, causing severe forms of anemia. Thalassemia is an inherited disorder that produces an abnormal version of hemoglobin. Thalassemia is also called Cooley’s anemia, Mediterranean anemia, Alpha thalassemia and Beta thalassemia. The latter two names refer to the two proteins – alpha and beta globin that hemoglobin is made up of. A defect of the gene that controls creation of these proteins (alpha or beta) causes thalassemia.

There are different types and sub-types of thalassemia. The two main types are alpha and beta thalassemia. Both have two forms – thalassemia major and thalassemia minor. A person with thalassemia major would have inherited the flawed gene from both parents while with thalassemia minor, only one parent passes on the defective gene. Those with thalassemia minor are carriers of the disorder and do not suffer from any symptoms.

Beta thalassemia (Cooley’s anemia) is the more prevalent of the two forms and occurs in people of Mediterranean origin and lesser in Asians, Chinese or African Americans.

Alpha thalassemia is prevalent in people from Southeast Asia, China, Africa or the Middle East. 

Symptoms of Thalassemia

Thalassemia symptoms can vary in severity depending on the type of disorder the patient has inherited.

Still Birth: This is most severe alpha thalassemia symptom results in fetal death,when the baby dies during the second half of pregnancy or at birth. 

Other alpha thalassemia symptoms: Patients with alpha thalassemia major suffer from other symptoms, which could be moderate or severe. These include:

  • Anemia
  • Fatigue
  • Paleness
  • Shortness of breath
  • Enlarged spleen

Anemia: Children with beta thalassemia major or Cooley’s anemia is normal when they are born. They develop severe anemia before they become one year old. Anemia in such toddlers is a result of lack of healthy red blood cells. 

Other symptoms of beta thalassemia: Apart from severe anemia, patients with beta thalassemia major suffer from symptoms such as:

  • Skin ulcers
  • Jaundice
  • Gallstones
  • Enlarged spleen (that causes discomfort in the abdomen and a constant feeling of fullness)

The following are some of the other common thalassemia symptoms, most of which are caused due to severe anemia.

Fatigue: This produces feelings of lethargy, exhaustion, weariness or tiredness. The person does not have the energy to perform any activity. Young children who experience these symptoms could cry a lot, not eat much or will be listless and not active. 

Shortness of breath: Breathlessness or breathing difficulty is an uncomfortable feeling experienced each time you take a breath. You will feel a sensation of not being able to breathe and start panting and feel exhausted even after the mildest form of activity – dressing, bathing etc.symptoms of Thalassemia

Jaundiced skin (yellow appearance): Jaundice is not a medical condition but a symptom that the patient suffers from some other disease. This causes a yellow staining of the sclerae (white portion of the eyes) and skin. Jaundice is often caused due to liver disease.  Since thalassemia causes damage to liver tissue, this could be one thalassemia symptom.

Growth failure: Babies with beta thalassemia major (severe form), can have skeletal (bone) deformities when their bones do not grow in the normal way. The body tries to make up for the lack of hemoglobin by creating more bone marrow. The cause of the deformities is the overactive bone marrow. In some, the bones of the face and head enlarge and thicken. Sometimes the bones of the arms and legs will weaken and hence are prone to fractures. 

Hormonal imbalance: Iron imbalance in the body due to beta thalassemia can also impact the hormonal system of the body, therefore causing puberty to be delayed and some may never reach puberty. 

What to do?

Type of thalassemia and its severity determines the symptoms the patient suffers. Some babies develop symptoms at birth, while others experience them only after a year or two. Patients who inherit only one defective hemoglobin gene need not experience any symptoms. 

Treatment of Thalassemia

Diagnosis of thalassemia requires specific hemoglobin tests, iron level tests, complete blood count and test to check if the patient has inherited the thalassemia gene.  Mild thalassemia symptoms do not require treatment. 

Moderate symptoms can be treated with folic acid or blood transfusions.

Severe thalassemia symptoms often require bone marrow transplant.   Blood transfusions and folic acid can be given for severe symptoms. Chemotherapy medications may be given to help the body produce normal hemoglobin. Rarely, the spleen maybe removed. 

Thalassemia : Prevention and Precaution

The following are some of the complications due to thalassemia.

If a person suffers from beta thalassemia symptoms, the body absorbs more iron from their diet to manufacture more hemoglobin. This creates excess iron in the body that results in tissue damage (especially the spleen and liver), making the patient more vulnerable to contracting infections. 

Patients with thalassemia require frequent blood transfusions since excessive iron is absorbed by the body. The excess of iron gets deposited in the heart muscles causing an iron overload, heart diseases and early death. 

To protect oneself from some of the complications, a patient must ensure they avoid vitamins with iron content. They must not take vitamin C, to avoid excess absorption of iron contained in food. A flu vaccine taken each year can reduce risk of infections that can increase anemia symptoms in thalassemia patients.

Severe forms of thalassemia cause many complications as mentioned above that can lead to early death. Those with less severe forms do not run this risk and can live fairly normal lives with the right treatment. Thalassemia cannot be prevented since it is an inherited condition. Hence, couples who have a family history of thalassemia must get prenatal screening and genetic counseling if they plan to start a family. 

Coping with thalassemia is difficult for both patients and family members. Hence, it is important to follow the guidelines provided by your doctor. Join a support group if there is one. They can provide emotional and psychological support and useful tips on coping mechanisms.