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delta beta thalassemia (high fetal hemoglobin)

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nwalsh528:
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

Andy Battaglia:
Hi Nicole,

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

--- Quote ---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.
--- End quote ---

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?

nwalsh528:
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

Andy Battaglia:
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.

nwalsh528:

--- Quote from: Andy on March 02, 2013, 03:05:56 PM ---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.

--- End quote ---
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

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