Recently diagnosed carrier of alpha thal.

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Recently diagnosed carrier of alpha thal.
« on: June 15, 2012, 04:04:05 AM »
Hello everyone,
                 I am so glad I found this forum. My husband and I were recently found to be a carriers for alpha- thal. My husband's blood levels are all well within normal limits. But, I have low HB -10.7 and MCV -80 MCH - 25.4 MCHC - 31.8

The PCR and MLPA test reported that we both have  "alpha -+- thalassemia trait, alpha alpha/alpha -"
Mutation identified - 3.7

This patient is an unaffected carrier of alpha thalassemia with a single gene deletion also called alpha - + -thalassemia trait. These individuals have no clinical symptoms.

 I am not sure if the single gene deletion is in one/both chromosomes. . If some one could explain it to me that would be great. Also, do we need any further tests?

Both our iron levels are all normal. We are actively trying for our first child. Any useful input is highly appreciated.

Thank you.



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Offline Andy Battaglia

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Re: Recently diagnosed carrier of alpha thal.
« Reply #1 on: June 15, 2012, 02:13:40 PM »
No worries. We each have 4 alpha globin genes. You and your husband both carry 3 normal alpha globin genes and are considered silent carriers, so the most you could give to a child is one each, so the child could have a maximum of two alpha thal genes, with two genes normal. People with 2 alpha thal genes are called alpha trait and most have a normal hemoglobin level. Some will have a mild anemia. Your own anemia may be related to iron deficiency, which can be determined by an iron panel of tests, or it could be related to low folate levels. I would suggest trying folic acid as a daily supplement to see if your Hb rises at all, as folic acid is the only treatment for the anemia of alpha thal. You may also want to get the iron panel done. Be assured there is no health threat to your children, as this would take 3 alpha genes and this is not possible when each parent carries only one alpha thal gene.
Andy

All we are saying is give thals a chance.

 

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