About Thalassemia

Dr. Sanjeev Digra
Every year 8th May is observed as International Thalassemia Day to create awareness regarding this genetic disorder. Here are some frequently asked questions regarding Thalassemia.
What is Thalassemia?
Thalassemia is a genetic disorder of blood which results in production of abnormal haemoglobin leading to rapid red blood cell destruction. Therefore these individuals remain anaemic.
How common is Thalassemia in J&K?
It is quite common in Jammu region especially in areas adjoining Indo-Pak border.
What is Thalassemia Major?
Children born with Thalassemia Major usually present with severe anaemia in the 1st year of life. They develop symptoms of anaemia and failure to thrive. If not managed properly they will develop thalassemic facies (i.e. pallor, prominence of facial bones and malocclusion of teeth), enlargement of liver and spleen, growth failure and later on delayed puberty, endocrinal problems (like diabetes mellitus), cardiomyopathy and cardiac failure.
How can we diagnose Thalassemia Major?
Apart from clinical features these children have low Hemoglobin levels and increased levels of Hb F on Hb electrophoresis.
What is Thalassemia Minor?
People with a thalassemia mutation only in one gene are known as thalassemia minor or carriers. It is a minor disease. Thalassemia minor person has no anaemia or very slight anaemia. They don’t require blood transfusions. In fact they cannot be distinguished from general population merely by physical appearance.
How can we diagnose Thalassemia Minor?
As we know, Thalassemia minors or carriers do not have any signs or symptoms, so the only way to detect the minor/carrier status is to go for a Hb electrophoresis for assaying Hb A2. Hb A2 levels more than 3.4 indicates minor status.
What is the treatment of Thalassemia ?
Thalassemia patients require regular blood transfusion to maintain their normal haemoglobin. Unfortunately regular blood transfusions result in accumulation of iron in various organs of their body. This iron overload can lead to darkening of skin, liver failure, heart failure and endocrinal dysfunction and finally death.
Therefore treatment of thalassemia includes not only regular blood transfusion but also iron chelation therapy. Iron chelation therapy includes the drugs which remove iron from the blood like Injection Desferrioxamine, Cap Defriprone or Tab. Deferasirox.
What is the average life span of a Thalassemic?
A thalassemic who is on regular blood transfusion and iron cheation therapy can live a normal life like any normal individual.  Now a days Thalassemics are living normal life and having families of their own. If given opportunities they excel in any walk of life. Recently a Thalassemic became an IAS officer. Many in Jammu are doing fairly well in academics. Some of them are Dental surgeons, Engineers, Physiotherapists and budding businessmen.
How do one inherit Thalassemia?
If both parents are thalassemia minor (Carriers),in each pregnancy there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassemia minor or a one in four (25%) chance that the child will have thalassemia major.
How can we prevent Thalassemia?
Broadly speaking prevention of Thalassemia is basically the prevention of marriage between two thalassemic minors or carriers. Therefore in areas and communities where thalassemia is known to be common, screening should be encouraged during school or college going age. Like the horoscopes (Janam Kundlies) are matched before marriage, Thalassemia carrier status must also be looked into and if both individuals are carriers then such marriage proposal should be discouraged.
If two carriers want to marry or if a couple comes to know after marriage that both of them are carriers, then they must go for an antenatal diagnosis of thalassemia in the foetus.
What  role should society play towards thallessemics?
Holistic approach to prevent Thalassemia includes dissemination of knowledge about thalassemia and promotion of premarital and antenatal screening and counselling. Since the mainstay of management remains regular blood transfusions so society plays a major role in it by means of voluntary blood donations,  spreading information about the disease and supporting Thalassemics by ensuring social security. Thalassemia is not a stigma or a curse but only a disease which has to be dealt with regular blood transfusions, Iron lowering medicines, with care compassion and support of society in general and health care professionals in particular.
Is there any permanent treatment of Thalassemia?
Bone marrow transplantation is the permanent treatment but finding a donor and the cost of this procedure are the major limitations. More over it is attempted at only few centres in India . Some centres are showing promising results and more and more children are getting benefited . Still it remains elusive to most children because of its cost and cumbersome follow up. Another possible permanent treatment i.e. gene therapy still eludes thalassemia patients.
(The author is Associate Professor Deptt. Of Pediatrics SMGS Hospital Jammu)

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