Discussion Forums > Thalassemia Major

delta beta thalassemia (high fetal hemoglobin)

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Andy Battaglia:
Keep in mind that the delta beta diagnosis is dependent on the accuracy of the report. Also, it is very possible that the report is not current, even though it supposedly is.

It does appear that China has made it much easier to adopt thals since 2007 when I wrote a letter to the China Center of Adoption Affairs, supporting an adoption based on their own child welfare laws. That adoption was eventually approved. I do not know how much effect the letter had, but it did provide a basis for the adoption solely on what are the laws of China regarding children.

nwalsh528:

--- Quote from: Andy on March 03, 2013, 08:48:32 PM ---Keep in mind that the delta beta diagnosis is dependent on the accuracy of the report. Also, it is very possible that the report is not current, even though it supposedly is.

--- End quote ---
Absolutely true.
In our favor is that this is the same exact hospital in Shenzhen City that our son was treated at for his beta thal major. It is a leading facility for blood disorders. His gene test was accurate (41/42 homozygote).

Hers says mutation on 41/42 but does NOT indicate heterozygote or homozygote. So, could be either. The high fetal hemoglobin is leading me to suspect (but could be wrong) that she may be heterozygote for beta thal and heterozygote for delta (if that's the correct wording). And while delta beta often is a more milder phenotype than beta thal major it can also be very similar to major.
I always caution anyone considering adopting a child from China listed with thalassemia to go into it assuming the child will have beta thal major. If someone is prepared for the care involved in that, and the child ends up having trait/minor or intermedia, great, but if not (if it is major) the family is prepared for it.
I'll keep everyone posted.
nicole

Andy Battaglia:
Mutation on 41/42 is a beta zero mutation, common in Southern China. When combined with other non-zero mutations, the outcome is variable. The cases I have found online where beta zero and delta beta are found together manifest as intermedia with an Hb in the 7's and an HbF approaching 100%. The absence of the adjacent genes seem to allow the gamma globin gene to produce HbF at a high volume.

nwalsh528:

--- Quote from: Andy on March 04, 2013, 12:00:26 AM ---Mutation on 41/42 is a beta zero mutation, common in Southern China. When combined with other non-zero mutations, the outcome is variable. The cases I have found online where beta zero and delta beta are found together manifest as intermedia with an Hb in the 7's and an HbF approaching 100%. The absence of the adjacent genes seem to allow the gamma globin gene to produce HbF at a high volume.

--- End quote ---
This is what we are thinking also.
She is being transfused each month, with a pre-transfusion hemoglobin of 10. She is likely being transfused with a group of other thal major children from the orphanage.
They do not (to my knowledge) have a way to test for delta in that part of China. Because the beta came back (heterozygote I believe), they are treating her as beta major...
Thanks for all this info. Andy!!
Nicole

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