delta beta thalassemia (high fetal hemoglobin)

Does anyone have experience or information on delta beta thalassemia (also called f thalassemia)

We are looking at the file of a 19 month old in China who is listed with beta thalassemia, but has very high fetal hemoglobin (even now, at 19 months of age). I understand this can be characteristic of delta beta thal.
I also believe that sometimes delta beta thal can be more like minor or intermedia and sometimes more like major.
One of our sons has beta thal major, so we are fully prepared for beta thal major with this next child.
The high fetal hemoglobin is throwing us off a bit.
Wondering if others have experience with this...
fetal hem. is 98.5 (now I'm not sure if there's a decimal issue and it's supposed to really be 9.85 or if 98.5 is really correct...)
Nicole

Hi Nicole,

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=231237

SUMMARY
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. Prevalence of this form is not known. The condition is found in many ethnic groups but is most common in Greece and Italy. The heterozygous form of the condition is clinically asymptomatic with mild microcytosis and no elevation of HbA2 whereas the few homozygous patients have a mild clinical presentation. When inherited with heterozygous classical beta-thalassemia, patients usually have the thalassemia intermedia phenotype, but the thalassemia major phenotype has been described in some cases. Delta-beta-thalassemia is commonly caused by deletions of the entire delta and beta gene sequences with production of only gamma-globin and formation of HbF. Rarely, non-deletional forms have been reported. Diagnosis is based on hypochromic microcytic red cell indices with significant elevation of HbF, ranging from 5-15% in heterozygotes. HbF is heterogeneously distributed among the erythrocytes. The alpha/beta-globin synthesis ratio is >1. Hereditary persistence of fetal Hb and beta-thalassemia (see this term) is the main differential diagnosis. The distinction between these two conditions cannot always be made from routine hematologic analyses and alpha-beta-globin chain synthesis ratio and DNA analysis may be necessary. Transmission is autosomal recessive.

HbF levels can approach 100% in the Delta-beta thalassemia patient. Most patients see a milder intermedia phenotype but some do manifest as majors. Is the child transfusing now?

The child is transfused monthly now, but that does not mean she needs to be.
She's an orphan in China.
I am aware of several people who adopted children who were listed as "beta thal major" and came to the U.S. and it was found they were ALPHA Hemoglobin H/Constant Springs. One has never been transfused in the US, the other two only after high fevers when their hemoglobin. cannot recover itself.
It is possible China is transfusing her just because her gene test did say beta thal. However, that might be heterozygote for beta and also have the delta. I realize it might end up that her condition is like beta thal major, and we are fine with that. However, what I've read seems to indicate it is more likely for a milder phenotype (and I would think a fetal hemoglobin that high would be helpful - at the very least she'd be a good potential candidate for hydroyxea - however you spelli it.)
Nicole

If the high HbF is accurate, the child either has Delta-beta-thalassemia or is also carrying hereditary persistence of fetal hemoglobin. The higher HbF does moderate the condition in most patients, presenting as an intermedia phenotype.

Americans are adopting Chinese thals more frequently. Children have access to much better care in the US than in an orphanage, and this is recognized by the Chinese adoption authorities. Raising children with thalassemia presents real challenges but parents find the reward of the child outweighs all else. There's plenty of joy to be found in giving a child a chance at a real life.

Americans are adopting Chinese thals more frequently. Children have access to much better care in the US than in an orphanage, and this is recognized by the Chinese adoption authorities. Raising children with thalassemia presents real challenges but parents find the reward of the child outweighs all else. There's plenty of joy to be found in giving a child a chance at a real life.

When we adopted our son Aaron in April 2010 (beta thal major) from China, there were only 5 other families in our adoptingthalassemia support group who had children with beta major. Now there are over 30. A  few have 2 children with beta thal major. As more have been adopted, China sees this is a special need/medical condition people in the U.S. are open to.
In China the outlook for orphans with thal is very bleak. They "age out" of the system at age 14 and many are turned out of the orpahanges onto the street where they have no access to transfusions. In one province in China, Guangxi, children (not just orphans) with beta major, 85% of them do not live to be age 5. And that statistic was prior to the acute blood shortage that has been going on in China for over a year now. Many hospitals in China require a family member to donate blood to replenish the supply when someone needs a transfusion, and in these cases, orphans are being turned away. I know of several children whose hemoglobin has been in the 2-4 range (!) and unfortunately several have died.
We are waiting for some paperwork to go through and hopefully will be able to adopt this little girl.
Delta beta thalassemia - always something new to learn in the that community!!
Nicole

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.

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.

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

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.

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.

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