Thalassemia Patients and Friends
Discussion Forums => Thalassemia Major => Topic started by: Saqib Gul on November 17, 2014, 02:36:51 PM
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Dear Andy,
I need your help/advise to understand the attached DNA reports. Does this report indicate Thal major or Intermedia?
My son was diagnosed Thal at the age of 3 years. Now he is almost 4 years. We do the blood transfusion after every 6 week which increases his Hb level from 7 .5 to10.5.
I was thinking to used Hydroxyurea and lemon grass, if it is Thal Intermedia.
I have also attached the electrophoresis reports for reference.
Appreciate your help. Thanks
Regards,
Saqib
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Andy may be better able to inform you as to the severity of this mutation. Your son's thalassemia appears to behave like intermedia.
The two mutations your son has are exaclty the same.
While your son seems to be an intermedia, for optimal health, growth and development my advice would be to either attempt hydroxyurea or to maintain higher hemoglobin levels with transfusion. Hemoglobin levels below 95 can place great stress on the bones, spleen and aother organs. You may begin to notice skeletal weakness and facial changes.
Sending my best to your family,
Sharmin
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Thank you Sharmin for your input and advice. Doctor has set the bench mark 7 Hb for BT. Well I will discuss with her this time to make the bench mark 9.5 or 10.
I will wait Andy's response as well.
Thank you again.
Regards
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The only reference I have found for homozygous Codons 8/9 (+G) is an intermedia case. Your child's phenotype does seem to be intermedia. Hydroxyurea and wheatgrass may be of some benefit. If it is available where you are, it is worth trying to see if it decreases the need for transfusions.
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Thank you Andy for your valueable feedback.
I will check this medicine if available in Saudi Arabia.
Regards
Saqib