DNA?

Hi All,

anyone please tell me about the role of DNA TESTING in diagnosing thal,my daughter was diagnosed thal major at age of three by doctors here,but after reading so many posts here ,i think she is an intermedia,do u think DNA test would be able to tell the difference,according to docs here in Pakistan, hb electrophoresis is enough to confirm it,,but it said thal major for my daughter,though she was never transfused befor the age of three and she was quite a normal and healthy child ,i am sorry i know i have asked this question before but i am unable to convince her heamo  ,i need a very solid ground,so if DNA would tell the difference,i'll be able to convince her heamo to stop regular transfusing and start hydrea,i hope i would recieve some replies.

THANX.

ZAINI.

Hi Zaini,

The DNA test is the most authentic test for the diagnosis of genetically inherited disease. It will tell you the extent of mutation of the genes that is causing your baby's condition. Thus pinpointing which type of Thal. she has.

On the other hand electrophoresis is just tells you the percentage of the composition of types of Hb in the total Hb. Doctors use this info to "guess" that a patient has Thal. Major if HbF percentage is high.

Take care, Peace.

Hello Zaini

DNA definetly can tell the difference between major and intermedia at least in my case. When i did the test for my son, i was told that the nature of one of the muted genes was mild and it appears only in intermedias and the other gene is a silent carrier that makes thal milder. Actually ,if i only depended on blood analysis i could have been diagnoised as a major as my son HB is pretty low for an intermedia though he is doing fine.

I think that doing a DNA test won't harm, on the contrary it can tell us more about the case or it will confirm that she is a major. I do have a personal belief that majors are not diagnoised by coincidence, but their  severe symptoms force you to take action and that was not the case for your daughter.

Anyway, hope you can find correct answers for your concerns

Take care

Manal

 

Hi Zaini,
     I think DNA testing would be good, and tell you more information. The fact that your daughter was not diagnosed with major until she was 3, makes me wonder as does Manal, if she maybe has intermedia. I think it would be worth doing the testing. Good luck, Jean

Thanx a lot ,,

Sajid,Manal and Jean,

u people are the best,,i am now searching for which lab is doing DNA here in karachi,i hope i'll get my concern answered after this test.

THANX AGAIN 

ZAINI.