Thalassemia is an inherited blood disorder characterized by low levels of hemoglobin and red blood cells. Thalassemia is caused due to defects in the genes that make hemoglobin. Hemoglobin is made up of two proteins- alpha globin and beta globin. Defects in the gene that constitute the alpha globin is referred to as alpha thalassemia whereas defects in the genes of the beta globin is referred to as beta thalassemia. In India, the prevalence of α-thalassemia and β-thalassemia is estimated to be around 3-4% and 13% respectively.
Signs and symptoms
Mild thalassemia doesn’t cause any symptoms. Moderate thalassemia may cause anemia symptoms. The following are the signs and symptoms of thalassemia:
- Facial bone deformities
- Unusual tiredness
- Abdominal swelling
- Pale or yellow skin
- Delayed growth
- Decreased appetite
- Dark urine
- Shortness of breath
Diagnosis of Thalassemia
The doctor will know about your medical history and family’s health history. The doctor would recommend you the following laboratory tests to identify thalassemia:
Blood tests are done to identify if you are a carrier of thalassemia and to analyze the severity of the condition.
Complete blood count (CBC)
Low levels of red blood cells and hemoglobin may indicate thalassemia. This can be determined by CBC.
A blood smear test is done by treating a thin layer of the blood with a special stain. This allows evaluating the number and the nature of red blood cells, white blood cells and platelets. In individuals who have thalassemia, the red blood cells may appear paler, smaller than normal, nucleated and vary in shape/size.
Prenatal tests like chorionic villus sampling and amniocentesis are done to determine and diagnose thalassemia in the growing fetus. These tests are also used to identify the severity of the condition. During these tests, a sample of amniotic fluid is collected and is tested for genetic disorders.
Certain gene mutations in the body produce abnormal hemoglobin which causes thalassemia. This test is used to identify the abnormal hemoglobin and also helps to determine different types of hemoglobin in the bloodstream.
Management of thalassemia
Your treatment plan depends on the type and severity of the disease. Individuals who are the carriers of thalassemia trait would have mild or no symptoms. The main treatments for thalassemia include:
Frequent blood transfusions help in maintaining normal hemoglobin and healthy red blood cells. However, people with moderate thalassemia may need the blood transfusion very occasionally. Individuals with severe β- thalassemia may require a blood transfusion once in a month.
Iron chelation therapy
Regular blood transfusion builds up iron in your blood, which can increase the iron toxicity. These iron deposits in liver, heart, and other organs can be cured by iron chelation therapy. The medications (chelating agents) that are used to treat such conditions are:
Bone Marrow Transplantation
Bone marrow transplantation involves the transplanting the blood stem cells from a healthy donor. Stem cells stimulate the growth of new marrow, which can produce red blood cells and the other components of blood. It is the most desirable treatment to cure severe thalassemia.
Your doctor may prescribe folic acid (Vitamin B) supplements, which helps in regaining healthy red blood cells.
- Healthy diet: A healthy diet with balanced nutrients helps your body to produce new red blood cells. Make sure that your diet is rich in folic acids, such as lentils, green vegetables, and citrus fruits.
- Low iron diet: If you are having regular blood transfusions, follow a low iron diet and do not take any iron supplements unless recommended by your doctor.
- Precautions: It is advised to take pneumococcal and hepatitis vaccines to safeguard yourself from infections. Individuals who have undergone bone marrow transplantation are highly prone to infections.
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- Thalassemia: An overview (epidemiology). http://www.jscisociety.com/article.asp?issn=0974-5009;year=2014;volume=41;issue=1;spage=3;epage=6;aulast=Aggarwal . Accessed on 16-10-2017
- Symptoms and causes. https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/dxc-20261829 . Accessed on 16-10-2017
- Thalassemia (laboratory tests). https://labtestsonline.org/understanding/conditions/thalassemia/start/2 . Accessed on 16-10-2017
- Thalassemia (diagnosis and treatment). http://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001 . Accessed on 17-10-2017