Thalassemia

Please spare some minutes to go through the text below, or the video. A few minutes spent here may save you from a life time of agony.
Thalassaemia is the name of a group of genetic inherited disorders of the blood. More specifically, it is a disorder of the haemoglobin molecule inside the red blood cells. It is an inherited genetic disease, i.e. a disease that is passed from parents to children through the genes. It is not infectious and cannot be passed on from one individual to another by personal or any other contact, through blood transfusion, food or air. The two main types of thalassaemia are β (beta) and α (alpha). Both affect the production of normal haemoglobin – a key constituent of human red blood cells.

Thalassemia is one of the most common genetic disorder in the world
Thalassemia is one of the most common genetic disorder in the world. An estimated 250 million people, that is, 4.5% population of the world is affected by Thalassemia. This is just a rough estimate and the real thalassemia population can far exceed that number.
In India, about 3.9% people are carriers. Most of them don’t even know that they are carriers of this crippling disorder. 8-10 Thousand Thalassemia major children are born annually in India. In Delhi one out of every 18 children born is a Thalassemia carrier.
Thalassemia is a serious inherited blood disorder. Thalassemia Major patients require life long repeated blood transfusions and costly medicines for their survival.  Often the blood transfusion needs to be carried out on monthly basis. Of course, it depends on individual cases. Some even require it every week. The proper managing of this disease requires, besides these transfusions, costly medicines, including Desferal injections that need to be infused over a period of several hours. That means the patient has to keep the injection and the infusion pump attached to the body over a period of ten-twelve hours, several days a week.
The only treatment available is Bone Marrow Transplant, which is very expensive and risky.
We can say that Thalassemia is incurable, except for the BMT procedure, which of course is out of reach for most patients.

However, IT IS PREVENTABLE!
This is a GENETIC disorder. If BOTH the parents are carriers of Thalassemia gene, there is 25% chance that there offspring may get Thalassemia Major. However, if only one  of the couple is a carrier, none of the child will be a Thalassemia Major.

Simple prevention “mantra” is
All unmarried persons and those married persons who are planning to have a child (even though their existing children are normal) should get themselves tested for Thalassemia carrier status by a blood tests called CBC, HbA2,  Hb Electrophoresis or Hb HPLC. These blood tests are quite affordable and are carried out by all hospitals and Path. labs.

PLEASE REMEMBER

Thalassemia carriers are NOT sick & anemic
Usually when we ask people that you may be a Thalassemia carrier and request them to get themselves tested, they reply by saying that they are absolutely normal and have no sickness. People think Thalassemia carriers are sick and anemic. Thalassemia carriers are not at all sick; some may be anemic but around 1/3rd Thalassemia carriers have Hb above 13gms.

If the first child is normal, it does not mean the parents don’t have Thalassemia trait.
People think Thalassemia carrier couples will always have Thalassemia Major children, which is not true. When both the partners are Thalassemia carriers there is 25% chance of having a Thalassemia Major child, 50% of having a Thalassemia carrier/Minor child and 25% Normal i.e. not even a carrier. This means that even if you are proud parents of normal child, still you should get yourself tested, just to be sure before giving birth to another life.
If only one or none of the couple is a carrier, none of the child will be a Thalassemia Major.

Thalassemia IS preventable
Thalassemia is 100% preventable, one cannot always prevent malaria, typhoid, Hepatitis B, C and HIV since there is always risk of exposure to these infections and no vaccine is 100% effective. Thalassemia can be easily prevented by pre-marital/pre-conceptual or early pregnancy screening followed by marriage counseling and antenatal diagnosis if required.

Thalassemia Screening is not costly and easily available
Thalassemia screening can be a part of Anemia screening and now even HbA2 estimation is also available in all major towns and cities. It costs just around Rs. 700, which is nothing when compared with life long trauma of repeated blood transfusions, hospital visits, daily injections and costly medicines.    Subsidized Thalassemia screening is available from National Thalassemia Welfare Society

Thalassemia is NOT found only in uneducated and poor community
Thalassemia is found in all walks of life irrespective of caste creed & religion . However it is more common in the people who are natives of the  Thalassemia belt i.e. Mediterranean countries like Cyprus , Sardinia Greece, middle-east Pakistan , India, Burma and Thailand.
In India, it is most common in Sindhis, Punjabis, Gujratis and Bengalis and people who have migrated from West Pakistan.

BMT is the only cure currently available for Thalassemia
Thalassemia can only be cured by Bone Marrow Transplantation but it requires HLA matched sibling, and around 5-10 lac rupees. However HLA matched donor is not always available and the procedure is very risky.

Some common prejudices that make the life of thalassemics even harder.

Thalassemia Major cannot live a normal life
Thalassemia majors can live normal life if they are given adequate transfusion and chelation therapy. General public can play a major role in helping the Thalassemics to live a normal life by voluntary blood donation once or twice a year and may be little but regular financial assistance to meet the expense of costly treatment.

Thalassemia major patients are physically weak and dull
Thalassemia major patients are very active and intelligent if they are properly treated with adequate treatment, they can be engineers, professors, doctors, businessman etc. Thalassemics are quite intelligent and many times even more intelligent than their siblings.

Thalassemia carriers should not marry
Thalassemia carrier can marry a person of his/her own choice . However if a Thalassemia carrier marries a carrier, then at the time of 8-10 weeks of pregnancy, the lady should go for antenatal diagnosis of Thalassemia. If the foetus is Thalassemia major then the couples have the option to go for abortion.

Thank you for taking the time to go through this. I would appreciate it so much if you’d pass on the above message to each and every person you know, through E-mails or personally. It will cost you nothing but will help us in ERADICATING THALASSEMIA and save the future generation from life long trauma of blood transfusions.
Help us pass on the message. Thalassemia is a serious disorder that requires a lot of expensive treatment just to sustain the life of the patient. Life with thalassemia is full of struggle, struggle for the very existence.

For more information, visit:

THALASSEMICS INDIA

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