Pino e Claudia from Italy

Hi to all,
I'm Pino (41 years old) from Italy.
I', married with Claudia and we have two sons: Giovanni (5 years old) and Leonardo Chun Ming (may be 3 years old); both adopted children: Giovanni born in Italy and Leonardo born in China.
The reason of our subscription on this forum it is for suspected alfa thal of Leonardo who are with us since last july.

 

This is last blood screening report:
Emoglobina 6.4
Globuli Rossi (red cell..): 3.72
Sg-Emoglobina A2 : 0.4%
Sg-Emoglobina F : 3.8%

and more others item but I don't now wich is important to write here....
The analist wrote: (bad traslation..) "Compatibles values with alfa thalassemic linked with variant hb. Suggest to make genetic screening"

Then today we have done one more blood screening and if the values will be confirmed, Monday we'll have our first Leonardo's blood transfusion.
We're so worried and confused....because this kind of thal it's very unknown in Italy......have you some suggestion?
Thank's a lot  in advance.

Hi Pino,

I agree that further testing is needed. A DNA analysis will confirm if this is alpha thalassemia. The Low HbA2 level does lead to that possibility. With the low Hb level and transfusion needed, it does look like possible HbH disease, which is a 3 gene affected alpha thal. Thalassemia care in Italy is very good, so I would not worry too much. If you need help in finding a thal center, please let us know which city you are in in Italy and we will try to find the proper center. Treatment is similar to treatment for beta thalassemia. One thing to be aware of with alpha thal is that fava beans are forbidden as they can lead to a hemolytic crisis that destroys red blood cells.

Please have a DNA analysis done for the child. It is a necessary step to make sure the diagnosis is correct.

I would also suggest contacting Dr Sodani through curethalassemia.org and ask if they can do bone marrow transplants for alpha thalassemia.

Hi Andy and thanks for reply,

I've some questions: what means "The Low HbA2 level does lead to that possibility. With the low Hb level and transfusion needed, it does look like possible HbH disease" ?
It is different to alfa thal?
We are speaking of intermediate alfa thal?
And more....how can I think to bone narrow transplant without Leonardo's related?
We are located in Emilia Romagna ...near Cesena/Rimini/Forlì/Ravenna/Ferrara.....

Thank you and sorry for my bad english.

Then today morning we have received the confimation about Leonardo's transfusion need.
The hemoglobine it is now 6.1... Tuesday we have transfusion.....

Dear Pino,

I went to Pesaro a few times, when I was a kid,
since at that time Dr Lucarelli, from the local hospital,
used to be a pioneer in bone marrow transplant techniques.

Their hospital can still be one of the best in the field.

Another excellent centre is the one in at the San Matteo hospital in Pavia,
where Dr Locatelli is the manager.

Hope this helps.
Cheers,
Roberto.

Pino, maybe this will help you too http://enerca.org/members-centers/country/14/ Maybe they know which is a good hospital in near your place. Went Leonardo's first blood transfusion well? Doctor Lucarelli is still a very good doctor, I believe. He is still one of the "highest" in transplant world.
Kind regards, Dore

Du Lucarelli is part of curethalassemia.org along with Dr Sodani. It costs nothing to email Dr Sodani with your questions to get expert answers to your BMT questions. I highly recommend it.

Thank's lot to all for yours very important informations.
Leonardo's first transfusion will be tuesday....a little prayer for him....
We are waiting for genetic screening to determinate exaclty which and how much gene are infected, but will made after trasfusion.
By

for Andy: we have contacted prof. Sodani and Lucarelli team and they have answered very quickly.
We have to wait for genetic blood screening like I just write up.
Thank's lot Andy .....we'll reading as soon as possible.....

Hi,
Leonardo he did your first transfusion. He was very great....I was more nervous  than him.
Unfortunately we have to wait more for genetic screening to determine exactly the gravity of disease.
We hope to don't find "spring" hb like how we have undertand will be more severe HbH disease.
Is there someone in this forum that have similar hbh disease???
Could be very important to have some informations...
Today I listen about 1 case, the first and 1 case,  of asiatic child who live since 3 years without trasfusion after genic therapy.  The attention is put to the vector of genic who, may be, seems to carry the emofilia risk too.....then there is a long work to made.....but this is a good news for me....do you know this case? what kind of thal have they treated?

The current work being done with gene therapy is directed at beta thalassemia. Because transfusions are not as common for alpha thals, it has not received the same research importance as beta thal. That is changing as the true scope of alpha thalassemia is being realized. There are more alpha thal carriers on earth than beta carriers, but because many of these are concentrated in poor Asian countries it has taken some time to realize how big the problem of alpha thal is. Most patients with HbH do not transfuse, but those with Constant Spring, which is caused by mutations of the alpha gene, rather than deletions, usually do need regular transfusions.

Pino, whatever the case, your child will be able to get treatment and live a good life. Giving people direction is a large part of what we do at thalpal. The more you interact here and read relevant posts, the better prepared you will be as a parent to provide for your child's needs.

The sudden destruction of red blood cells, hemolysis can happen with alpha thalassemia. This can drop Hb levels 2 or more points in a short time. If this is ever observed to happen, be aware that certain foods, drugs and chemicals can cause hemolysis in alpha thals, so review the list of things to avoid in our post at http://www.thalassemiapatientsandfriends.com/index.php/topic,3410.msg34830.html#msg34830

Hi to all,
we have done the blood analisys to control the hb level after Leonardo's first transfusion.
The hb level it is 8.5. after 170cc of trasfusion and after 24 days.
We are waiting for genetic screening at least 30 days.
Have you some consideration to add to our "story"?
Is it the hb value too low after trasfusion to show a very quick hemolitic power?
It seems that the value after trasfusion should be like 10 hb.....
thanks in advance

Hi guys,
today we had a genetic analisys screening.
Unfortunately our Leonardo Chun Ming he's HBH  disease with Constant Spring.
Heterozygotic genotype --SEA gene deletion and HB Constant Spring.

Andy, have you some news to give us?

Hi leonardo,
I am sorry to hear. i cannot help you as i have never heard of this mutation. But i do not have thal, but pyruvate kinase deficiency.  However, keep us posted and I am sure Andy can help you. Have a nice day.

Pino,

HbH Constant Spring can manifest similar to beta thal major, requiring regular transfusions and chelation. The SEA deletion totally deletes the one set of two alpha genes. The Constant Spring is a non-deletional mutation of one of the remaining two alpha genes, leaving only one unaffected alpha gene. The non-deletional mutations generally present with more severe symptoms that HbH, so regular transfusions are often required to maintain quality of life. Since this is similar to beta major, BMT may be a consideration. I would suggest a consultation with Dr Sodani or Dr Lucarelli.

I suggest not allowing the Hb to drop below the 9-9.5 range before transfusing so that proper growth and development can be maintained.