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 SocietyThalassemia 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.

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42 thoughts on “Thalassemia”

  1. My nepew has thalassemia n his hla has been match n surgery is possible in vallor cims hospital by dr menan chedyy but it is costing 400000 lac .i hv not enough fund from where i can get fund please give me some contact no.

    1. Hi, sorry to hear about your nephew. I hope he’ll be able to get the BMT soon and recover fully. I have given some contact details on this blog post. These are all organizations working for thalassemics. Please contact them. They’ll be able to guide you better.

  2. Hi jyoti,
    My brother is 18 years old and he is a thal major patient.He is well and living a very normal life.we want to go for BMT but due to financial problems we are not taking any step. can you please suggest us any Ngo or someone who can help..
    Regards,
    Heena Khan

  3. Hi Jyoti,
    First of all, thanks for the awareness that you are spreading.

    This is Subrato. My wife is pregnant for 13 weeks. And unfortunately, we both are diagnosed with Thalassemia minor. We did not have idea of any tests for thalassemia before marriage.

    Right now, our doctor asks to go for genetic counselling. Do you have any contact in Delhi wherein some screen tests are done to diagnose thalassemia early during the pregnancy ?

    Does Red Cross Society Delhi help such couples ?

    Regards,
    Subrato

    1. Hi,
      I don’t think Red Cross Society provides any testing or counselling service to couples. For more information, you may contact Dr. J. S. Arora at drjsarora@gmail.com. There are many doctors and welfare associations working for thalassemia in Delhi and neighbouring areas. I have given the links to two organizations at the end of my blog post. You can also find them on Facebook. Search for Thalassemics India and NTWS New Delhi. You will find many people on these facebook groups to guide you and offer useful suggestions.

      Best wishes.

  4. hi i am nirav and i have 10 month old daughter who suffring form thalassemia . we need help . is there any ngo who can help me am from gujarat .

    1. Hi,

      Sorry to hear about your child. I hope she will soon be blessed with a successful cure and a healthy and happy life.
      I’m not connected with any NGO, nor am much aware about associations in Gujarat. But you will find some links, including an email link, at the end of my blog post. You may please contact there for latest and best advice and suggestions.

      Regards

  5. Dear Jyoti,

    I salute your courage and have this great idea of spreading awareness.
    There is a small boy(7 years old), he is suffering from thalassemia major. He needs to go for blood transfusion in every 20 -25 days. Both the parents are infected with thelessemia but they have given birth to another girl which is perfectly fine.They also kept the stem cell of baby girl to cure there son , but it doesn’t matches.The family does not have a proper financial support. The doctor told them to go for BMT and it costs around 15-20 Lakhs. Is there any NGO which can help them or can u please help to raise some fund for them as we need to save every thalessemia child. Please mail me at megaurav11@gmail.com, so that we can take some early step as if he grows more older there will be less chances of cure.

    Cheers!!

  6. Hi! jyoti di,
    my name is suman n my age is 17.I m also thalassemia patient. l am too stressed as I m also suffering from high diabetes. my iron is 6500mg/dl.. l m taking desirox n desferal. my HB level is also very low its not maintaining .my eyes often seems yellow. doctor says its bcoz red blood. cells r breaking fastly. n my blood duration time is 3 to 5 days.pls if u can help or give any advice.
    waiting for reply. thank u .

    1. Hi, Suman,
      Very sorry to hear about your condition. I can imagine how tough it must be to go for a BT every three to five days. Has your spleen been removed? If not, then maybe it’s the spleen that’c causing such rapid fall of RBC. At least, that’s what the cause was when I started needed such frequent transfusions. I have seen it happen to one of my friends too.
      As long as your blood count is low, everything else would create problems. Diabetes, high iron etc, harmonal imbalance etc. Do get advice from a good doctor. Where do you live?

  7. s there any N.G.O. provide support to the patient of “Thalassemia”

    Kindly read carefully you may help if wants-

    A child is suffering from lethal disease Thalassemia, somehow we have manage to get Rs.3, 00,000/-(Rs.Three Lac only with the help of a member of parliament through “Prime Minister Relief Fund”) despite of the fact that the expenditure will be more than Rs. 10, 00,000/- (Rs.Ten Lacs) for an operation suggested by Doctor’s of AIIMS;

    Kindly extend supports; those who want to contribute through any means can contact Mr. Harendra Dubey on 08860265920 (He is the father of patient Master Shubham 22 months)

    Your kind help may save a precious life.

  8. Hey jyoti
    Hi hows u.Read ur full post -I am myself a thalassemia major.Whatever u shared its truth n I have fully experienced all this ya we are not sick just more intelligent than others.Sometimes I become very sad n upset when I see others around me so happy living a healthy life wheras I had to go for transfusions after every 20 days.

    1. Hi, Ruchira. Thanks for contacting. I can understand your feelings. It’s but natural to feel so. But don’t let such feelings pull you down. Life is hard, I know, but we cannot let go of it and sink into defeat. So strive on, dear. And concentrate on what you have, and what you get or achieve from what God has given you. God bless.

      1. Thanx 4 d reply as it is u r elder than me I should call u di.I want to share my problem with u that my age is 18 and my height is normal like other friends.But there are no puberty changes had already taken treatment of hormones for 1 month but left as no effect was seen.My iron is maintained at 990 and I take combine therapy of desferal and desirox.Plz help di

  9. OH SRY….my brother and sister are major ones n i want them to live more than my life.they r having blood transfusion and use kelfer n folvite on regular basis . Did you recommend some another medicine instead of these. share ur opinion abt BMT which will be done in future……thnx 4 ur co-operation.

    1. Hi,
      Sorry to know about your brother and sister. I hope they are doing well.
      I am a thal major too. I also take kelfer and folivite. I have also been taking calcium and vitamin D3 since a long time. I am on combination therapy, so I also take desferal. These days, I’m also taking vitamin E capsules and wheatgrass tabs, just to add an extra boost 🙂
      I don’t know how old your siblings are. But I would request you that if they are in pre=puberty or puberty years, then do consult a good endocrinologist to ensure they grow normally. I really wish it could have been possible for me, but it wasn’t. These days I see Thal kids growing normally, attaining good height and getting married etc. All thanks to proper management. Not having normal growth does not just causes less height, it also causes lot of psychological issues like lack of confidence and self esteem. So please take care of that. Help them grow into confident, independent individuals so they can stand on their own and face the world.
      As for BMT, I think the chances of its success have improved much with time. I don’t have any personal experience with it as by the time it became affordable, I was already too old and had developed too many complications for it to be safe for me.
      For more info, you can join this FB group: https://www.facebook.com/groups/thalsupport/

  10. my brother and sister are major ones n i want them to live more than my life.they r having blood transfusion and use kelfer n folvite on regular basis . Did you recommend some another medicine instead of these. share ur opinion abt blood transfusion which will be done in future……thnx 4 ur co-operation.

  11. Dear Jyoti,

    Please help one patient (a small girl) with thalassemia major aged 12 years. The family does not have a proper financial support. please suggest some good treatment which they can afford and cure as saving the life of the child is very important and i have seen that sweet girl she keep saying i will not live for more days. i may die any time please help and mail me any details jasshu7@gmail.com

  12. Hi Richa,
    sorry for the late reply. Thank you so much for your lovely compliments and your support. It is the people like Jyoti that have and are making the real difference. God bless them all and yourself. 🙂

      1. hi jyoti,
        me and my sister is an thalassemia major. sometimes my eyes were seems red. if you tell some medicines for us. my sisters iron is high
        I also take desferal and kelfer. I feel so weak sometimes. please tell some medicines form me and my sister

        1. Hi,
          Yes, i too had the same problem of red eyes once. I went to an eye specialist. He gave some drops and that cured it. I’m sorry, that was some years ago, so I don’t remember the name of the medicine. But you can consult an eye doctor at your place.

  13. Hi Jyoti,

    I salute your fighting and sharing spirit.Keep blooming 🙂

    and Hey Annonymous,
    You really seems to be a helpful and lively person. Nice to see your wish to extend the help.Keep the good work up.

    Take Care!!
    🙂

  14. Dear Jyoti,

    Thank you for your fast response. Yes I have been grateful for the facilities available to me here. It is very sad to here that so many people are suffering in India. As for the prejudice side of the matter, I can relate to the judgement since I am middle-eastern myself.
    I believe that it is great you are raising awareness to the people of India about just how normal people with this condition are. More so this needs to be emphasised by giving Thal patients confidence to get involved in activities they wouldn’t do on a day to day basis. One small suggestion would be a CHARITY FASHION SHOW modelled by only Thal patients, followed by brief insights on their lives outside of Thal. Of course I am speaking as an outsider and this just an idea , I do not know the intensity of the economic issues and how easy or effective this suggestion will be. In the UK we often have events such as these to raise awareness.

    Finally, Since I started off taking injections myself and now take tablets, I have a few boxes of Thaleset needles and other relevant equipment for the injections. I was wondering if there is anything I could do to help you, it would be to distribute these supplies to homes were they are needed. If this is not a suitable help and there is anything else I could do to help or raise awareness please do let me know. I have many friends working in big Thal charities and societies which could also offer some sort of help or support.

    I look forward to hearing back from you

    1. Hello,

      Thanks for your messages. Your suggestions are really good. However, I won’t be able to make much use of them as I myself am only a patient of Thalassemia Major. I’m not associated with any thal. organization. However, if you wish to connect with people who are actually involved with such activities, you can contact Thalassemics India. The people there would be able to suggest better how you and your friends can help.

      Regards

    2. Can you please give me your connect email address or skype etc, As i have only 1 year child have Thalassemia Major.

      Thanks,
      Rohit

  15. I appreciate Your concern for thal paitents as i am one myself. Luckly in england all residents can get adaquate treatment and live a normal stress-FREE life. However you have written that life with this condition is a struggle. I am wondering is that because there arent enough facilities in india Or is that just Your own experience? It would be nice to year Your views.

    1. Hi,

      Thanks for your message. Nice to know that you are enjoying such good facilities in England. Here in India, just getting the proper treatment is a stress in itself. It’s very expensive and a big burden on the families of the patients. Plus, for grownup thals. getting into a career and relationships is proving very difficult too. There are many prejudices to face and overcome.

      It is true that now many patients in big cities are managing to live a near normal life. But for most, it continues to be a big struggle and burden.

Share your thoughts, please!