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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does This Haemoglobinopathy Screen Test Result Indicate?

Hi Me (female, 21 years) and my partner (male, 23 years) had a Haemoglobinopathy screen test (HPLC) My results showed that I’m a probable carrier of an unidentified alpha chain variant. No evidence of thalassemia. HPLC screen for HB: Abnormal peak detected. HbA=80.8% HbF= 0.0% HbA2= 2.2% HbAbnormal=17.0% On the other hand, my partner results showed that he is alpha thalassemia carrier: HbA=97.9% HbF= 0.0% HbA2= 2.1% the HPLC analysis shows a normal pattern. However, Normal Hb A2, Microcytosis and Hypochromina are suggestive of ALPHA THALASSEMIA. In carrier state, alpha thalassemia is clinically not significant. I want to know what are the possibilities of getting a healthy child? we have been told that 50% the child will be alpha thalassemia major, and 25% he will be disabled, so we are left with only 25% of having a healthy baby! We spoke to a doctor about PGD-IVF (Pre-implantation genetic diagnosis), she said with PGD, we can get 100% healthy children. We still didn’t get married, and we were planning to do that. I’m worrying about the results.. should we brake up? or get married and do the PGD..is PGD safe and reliable? Thank you very much in advance,, Regards,,
Thu, 12 Feb 2015
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Hematologist 's  Response
Hi, dear
I have gone through your question. You have 25% chance of major disease, 50% chance of alphathalassemia minor and 25% chance of normal.

Preimplantation genetic diagnosis give 100 % chance of healthy child and it is safe and reliable. So go for marriage and PGD.
Thanks for using health care magic.
Wish you a very good health.
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What Does This Haemoglobinopathy Screen Test Result Indicate?

Hi, dear I have gone through your question. You have 25% chance of major disease, 50% chance of alphathalassemia minor and 25% chance of normal. Preimplantation genetic diagnosis give 100 % chance of healthy child and it is safe and reliable. So go for marriage and PGD. Thanks for using health care magic. Wish you a very good health.