Sunday, 7 May 2017

World Thalassemia Day

Thalassemia is blood disorder that occurs due to deletion of major gene fragments that plays a key role in producing the haemoglobin. In some cases, a genetic mutation in the haemoglobin genes also causes this disorder.
Haemoglobin is a molecule of a protein in the red blood cells. In this inherited disorder, the body produces an abnormal form of haemoglobin and it results in inadequate oxygen supply to the muscles.
Usually, parents become the carriers of this genetic disorder. If both parents have this disorder, there are greater chances that the next generation will have a more serious form of this disease.

Types of Thalassemia:
Based on the severity of this disorder, there are 3 main types of Thalassemia.

Thalassemia Minor -  People with this disorder don't actually have any symptoms. However, they act as the carriers of this disorder to next generation. With the lack of visibility of any symptoms, it is not possible to identify this disorder. It makes important for us to get tested if any of the family members or relatives have this disorder.

Alpha Thalassemia–This type has two sub types - Hemoglobin H disease and Hydrops Fetalis.

Hemoglobin H – This mainly affects the facial bones causing over or abnormal growth of jaws, cheeks, and forehead. Additionally, it causes enlargement of spleen, jaundice, and malnourishment by causing poor appetite, especially in children. 

Hydrops Fetalis – This is an extreme condition of the disease that mainly observed in the fatuous in the womb. Most cases, the baby will be either stillborn or dies shortly after the delivery. 

Beta Thalassemia – In this case, both parents would be Thalassemia patients and the disorder will be severe in the next generation. This also has two subtypes - Thalassemia Major (aka Cooley’s Anemia) and Thalassemia Intermedia.

Thalassemia Major (aka Cooley’s Anemia) – This type of Thalassemia is usually so severe and life threatening that the patient may require frequent blood and bone marrow transfusions. The symptoms also including infections, jaundice, poor growth, enlarged organs, and fussiness.

Thalassemia Intermedia – People with this form of Thalassemia don’t require the blood transfusion. The severity is way lesser than Thalassemia Major. However, regular diet and doctor consultation may help the patient to keep health in stable condition. 


The treatment of Thalassemia depends on the form and severity of it. Regular consultations with the doctor help in understanding the form of the disease and hence the treatment. Need to take diet which is nutritionally rich along with the supplements if prescribed.

In the severe forms of Thalassemia, it is advisable not to take food or supplements that contain iron. Human body develops excess iron when the blood is transfused. If the food also has iron contents, there are chances of excess iron in the body which is not good for health.

If any of the above mentioned symptoms are observed in infants below 2 years, or any of the family member has this disorder, the child needs to be taken to the haematologist (Blood related disorder specialist).

If you have Thalassemia, consult a genetic counsellor before thinking of having children.
Severe form of Thalassemia is a chronic disorder and coping with it is challenging. The patient require healthy diet, regular consultations with the doctor and most importantly moral support from the family members and friends. 


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