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Author Topic: Mutation Analysis  (Read 1082 times)
maha
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« on: January 06, 2018, 08:30:09 AM »

Hi
The HBB gene sequencing reports states

Variant : c.17_18delCT Homozygous

Interpretation: Codon 5 (-CT) by old nomenclature. The deletion of 2 nucleotides in exon 1 produces a frameshift mutation and causes a beta 0 type of thalassemia.

Only thing I understand from the report is the beta 0. As Hassan had responded well to Dr Ramanan’s treatment was thinking perhaps he is a beta+ but the report states otherwise. As of now it’s been over 18months since the last blood transfusion and his hb is 9.8

What does a homozygous deletion mean?
Does it mean that we parents have the same trait??
« Last Edit: January 06, 2018, 08:43:54 AM by maha » Logged
Andy
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« Reply #1 on: January 06, 2018, 06:25:08 PM »

Homozygous means both genes are the same, Codon 5 (-CT) . This is a beta zero gene. If this is correct, it means the child has an unusual capacity for producing fetal hemoglobin, HbF, with stimulation, such as drugs like hydroxyurea and thalidomide. I hope that Dr Ramanan has been informed of the Codon 5 (-CT)  genotype. Some people do have other genetic features that favor the production of HbF, and your son appears to be one of them.
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maha
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« Reply #2 on: January 07, 2018, 02:25:05 AM »

Yes Andy, I have forwarded the report to Dr Ramanan. We have an appointment with him on the 15th of jan. it was Dr Ramanan that insisted on the mutation analysis being done.
This time in spite of taking IP6 his ferritin increased from 222 to 347.
What’s a good dosage for a 11 year old weighing 37kgs?

Thank You
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Andy
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« Reply #3 on: January 23, 2018, 06:56:03 PM »

IP6 alone cannot prevent the iron from rising. It has to be seen as a supplement to chelation and one of its main values is its ability to remove iron from the glands. Dosage for a child his age can be 500-1000 mg daily.
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maha
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« Reply #4 on: February 04, 2018, 09:33:14 AM »

Thank You Andy, Presently giving him 500mg, will increase it and see. Chelation was stopped when his ferritin reached 300mg. His current hb is 10. Doctor advised to give tea with meals. Something which I used to give when his ferritin was in the 2000 range along with chelation.
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« Reply #5 on: February 09, 2018, 03:31:41 PM »

Tea is always advised, both for its mild chelation properties and its antioxidant properties.
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