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.
Treatment
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.
