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Parents may cause thalassemia to the child and believe me its preventable

Health & Lifestyle
Contributed by : Staff
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Dr S K Gupta,
Senior Consultant Haematologist,
Continental Hospitals

Hyderabad, 8th May 2020: It has been estimated that the prevalence of pathological hemoglobinopathies including thalassemia major in India is 1.2/1,000 live birth, means- 20,000 to 35,000 per year.

Every year 10,000 children with Thalassemia major (a severe type of Thalassemia) are born in our country including Telangana and Andhra.

Is it preventable now? Has its treatment become easier over time? Should every parent be tested for thalassemia ? On the occasion of World Thalassemia Day (8 May), understand as a question-answer about the severity of this disease and about how badly it can affect in daily life and the easier way to prevent this?

What is Thalassemia?

It is a genetic disease leading to low hemoglobin (Hb) in the blood of the victim. Based on clinical presentation Thalassemia is of three types - Minor, Major, Inter media. Minor also known as carrier or trait and its not causes any concerns to that person (Just like asymptomatic- COVID19 ) So majority of times patients of Minor may not be knowing about the disease even for life. Major becomes symptomatic before their first birthday itself and inter media starts to express the symptoms between 3-5 years

2. Who can get the disease?

Thalassemia is a autosomal recessive genetic disease. Child can get this disease only if either mother or father affected with any one type of thalassemia including asymptomatic type. If one of the parents has thalassemia, the child may born normal or may have asymptomatic carrier thalassemia. But if both parents have thalassemia carrier/ minor, then 25 % of the children are prone to major, another 25 % normal and at the same time, 50% can be asymptomatic carrier/minor

Can we prevent our child from thalassemia?

Yes, we can prevent this life long disease happening to our kids. And for this no major test is required.

Every couple who are thinking about the child, first of all they should do HbHPLC blood test(few hundred rupees) to know whether they have underlying asymptomatic carrier state of Thalassemia or not .

If the spouse has Thalassemia(minor, inter media or major ), then we can do genetic testing on fetal sample collected through chronic villus sampling (CVS) between 10 to 12 weeks of pregnancy and if delayed then upto 16 week to 18week we can take this sample via amniocentesis .

4. How can I know that my kid is having thalassemia ?

Thalassemia major which is a life long disease and manifestations starts before first birthday. Baby looks pale, become irritable, hunger is greatly reduces and even Breastfeeding also reduces, and so they will not gain weight also. The belly of such children is also increased compared to normal children.

5. As you said its a life long disease, are there any treatment, so that my kid can go to school, study, play like others?

Children with Thalassemia can also lead a good life. They just need timely proper care. Regular, Pre storage Leuco depleted Packed red blood cells transfusion (no PRBCs or whole blood) to maintain the hemoglobin level equal or above 9 to 10gm. And not to have iron overload by starting oral iron chelation therapy with in first to 2 to 2.5yrs of age are two fundamentals treatment to keep our child fit like any other his/her peer. Permanent treatment of this is possible only with Blood/ Bone marrow transplant (BMT). Healthy blood/bone marrow stem cells from sibling, parents or unrelated donor is required for this. And now a days with even 50% HLA match also we can do this BMT.

Myths and truths related to Thalassemia

1. Should not two thalassemia positive people get married?

it's not like that at all. Both can get married, but a genetic test by taking sample, a sample from CVS or amniocentesis procedure should be done between 10-16 weeks after conception, so that the right steps can be taken in time.

2. As we understand that thalassemia means low Hb level, so if my Hb level on my company health check up is normal (say more than 12.00gm) then i will not have any type of thalassemia and i will not transfer it to my kid ?

Still you can have thalassemia carrier status and your kid can be born with serious thalassemia .This carrier/asymptomatic/minor status can be suspected by carefully assessing your CBC report, not just seeing your Hb level. We can confirm it by simple Hb HPLC blood test.


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