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Is Thalassemia A Hereditary Disease?

Posted on Thu, 15 Oct 2015

Question: this is a referral for my 2 yr old son to see a haematologist. we are waiting. my husband and I were both screened before having baby through ivf ( we were told all.fine to go ahead with ivg for baby) and recently. my hubby carries sickle cell trait my blood came back as normal woth low iron to retest. I have been tested three times for thalassaemia trait in past and all negative. is it possible that my son has both traits? Does this mean he has a blood disorder? wr have three frozen embryos and another 10month old son. He had blood test at 10days and I had gp re look at results and he told all all normal. o am.very stressed about this..please help. the second attachment is an older blood reault

Answered by Dr. Dr. Rakhi Tayal (1 hour later)

Brief Answer:
Not likely to be a carrier of thalassaemia if father is not a carrier.

Detailed Answer:
Hello,
Thanks for trusting us with your health concern.
Your son is a carrier for sickle cell trait as your husband is also a carrier. If both of you have tested negative for thalassaemia then there is no need to worry. Then he cannot be a carrier of thalassaemia trait.
Being a carrier does not mean that he has any blood disorder. A carrier is not affected by the disease and does not show any symptoms. He can pass this trait to his children.
The decreased MCV that he has is likely to be due to iron deficiency. This will come back to normal after proper supplementation.
Please feel free to discuss further. I will be glad to answer the follow up queries that you have.
Wishing you good health.
Regards.
Dr. Rakhi Tayal.
For future query, you can directly approach me through my profile URL http://bit.ly/Dr-Rakhi-Tayal

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dr. Rakhi Tayal (16 minutes later)

hi at this point we have both tested negative for thalassaemia trait but gp said sometimes the thalassaemia trait can hide despite a negative reading. when this test was done he had been on iron supplement for a year ans dr said his iron was normal. is it possible for thalassaemia trait to hide and give a false negative result? also if he does have both traits is that a blood disorder?

Answered by Dr. Dr. Rakhi Tayal (10 minutes later)

Brief Answer:
MCV and MCH are slightly lower.

Detailed Answer:
Hello.
Thanks for writing again.
It is rare for the thalassaemia trait to remain hidden and to give a false negative result. His MCH and MCV are slightly on the lower side even after the supplementation. A hidden trait can be ruled out only after a blood test. Even if he has both the traits it is not a blood disorder. A carrier does not show any symptoms. You need not worry.
Hope my answer is helpful.
Do accept my answer in case there are no further queries.
Regards.

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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar