Thalassemia is a genetic disorder which affects the blood in a person. This disorder causes the body to procedure an abnormal kind of hemoglobin (oxygen-carrying protein) in the red blood cells. This results in a large number of red blood cells getting destroyed which can lead to anemia.
Thalassemia treatment varies in methods and approach, mainly, according to the type of thalassemia you have as well as its severity.
Types of Thalassemia
The main factor for determining the type of thalassemia is the type of hemoglobin protein that is affected. The hemoglobin in the red blood cells is made of two proteins:
- Alpha globin
- Beta globin
The ‘Alpha thalassemia’ develops when the genes related to the alpha globin protein get mutated (changed) or are missing altogether. This type of thalassemia is generally seen in people southeast Asia, China, Middle East and those of African origin. Alpha thalassemia is also subdivided into ‘thalassemia major’ and ‘thalassemia minor’.
The ‘Beta thalassemia’ occurs when genes related to the production of the beta globin protein are affected. This type of thalassemia is mostly seen in people of Mediterranean origin and less seen in people of Chinese, other Asians and African American origin. This type of thalassemia is also subdivided into ‘thalassemia major’ and ‘thalassemia minor’.
Causes of Thalassemia
Thalassemia is basically a genetic disorder and scientists have identified the type of gene which gets affected and results in thalassemia.
Thalassemia major is caused when you inherit the gene defect from both parents while thalassemia minor is caused when you receive the defective gene from one of the parents. People affected with this form of thalassemia are generally carriers for this disease as well and might not show any significant symptoms.
Signs and Symptoms of Thalassemia
The most serious form of alpha thalassemia major causes stillbirth in which the unborn baby dies durin the birth or earlier, during pregnancy.
Children who are born with thalassemia major (Cooley’s anemia) appear normal at birth but are seen developing severe anemia during their first year after birth.
Other commonly seen symptoms include:
- Facial bone deformities
- Growth abnormalities
- Shortness of breath
- Jaundice (yellow skin)
In case you notice any of the symptoms it is advisable to seek the counsel of an experienced doctor/physician. The doctor will usually perform a physical examination for looking for an enlarged spleen. A blood sample may also be taken for pathological testing in the laboratory. This test will check for:
- Abnormally-shaped and smaller-than-normal sized red blood cells
- A complete blood count (CBC) to determine the presence of anemia
- Alpha thalassemia using a test called ‘mutational analysis’
The treatment for thalassemia depends mainly on the type you develop and its severity.
Mild Thalassemia – This type of thalassemia minor usually presents mild symptoms and requires little, if any, treatment at all. At rare times you might also require a blood transfusion mainly after a surgery, childbirth or to help in managing the various thalassemia complications.
Certain people with beta thalassemia may also need this treatment for iron overload. This is because most people with beta thalassemia have increased rate of absorption of iron which leads to excessive amounts of iron being produced in the body.
Moderate-Severe Thalassemia – The treatment for moderate to severe forms of thalassemia may include:
- Frequent blood transfusions – Many severe forms of thalassemia often require frequent blood transfusions, mostly on a weekly basis. With the passage of time the blood transfusions cause an increase in the level of iron in the body which could lead to the heart, liver and other organs getting damaged. Medications are provided to help your body get rid of the excess iron.
- Stem Cell Transplant – This treatment method is also known as ‘bone marrow transplant’ and is useful in treating the most severe forms of thalassemia in chosen cases. Before the stem cell transplant therapy, you will receive very high doses of drugs, or radiation, to destroy the affected bone marrow. Later, you will receive infusions of stem cells from a compatible donor (allogenic transplant). This is a slightly risky procedure and is reserved exclusively for those patients affected with very severe thalassemia and has a compatible donor available, usually an immediate family member.
Thalassemia treatments come in many forms and mainly depend on the type of thalassemia and its severity. Thalassemia is a treatable, and even curable, form of medical disorder if it gets appropriate medical care at the right time.