Thal Intermedia questions

hi can i know what is the difference between minor and intermedia ? i know how  one get minor/trait and major. but how do one get intermedia ? does it evole and mutate from minor ? i am asking in the relate to beta thal .

Minor = 1 thal gene (beta, E, alpha)
Major = 2 homozygous thal genes (both beta) or two heterozygous thal genes(beta + E, beta + alpha)
Intermedia = 2 homozygous E genes or two heterozygous thal genes (beta + E, beta + alpha)

I know I have put beta+E in both major and intermedia, but this condition can present itself as either non-transfusion dependent intermedia or transfusion dependent major. The classification of major and intermedia is really more a classification of symptoms, rather than the genetic condition itself (except for beta+beta, who are always major). The other thing to note is that non-transfusion dependent intermedia evolves into a transfusion dependent condition in majority of people over a few decades.

Hope that helps.

Poirot

u mention beta + E , beta + alpha in both inter and major. so beta + beta is a major. but 2 different thal genes ( beta + alpha , beta + E ) can be inter to major depending on the extent of symptoms ? thats what u mean ?

2 different thal genes ( beta + alpha , beta + E ) can be inter to major depending on the extent of symptoms ? thats what u mean ?

Exactly right. The range of symptoms can differ widely, when you have two different genes, ranging from intermedia to major. Actually, the doctors classify anything that is not minor (specific condition) or major (specific condition) as intermedia and hence, this is a fairly big range of symptoms.

Hope that helps.

Poirot

Right.. so when couples test before having a child, they should test not only for the Beta gene, but also the E part.. I am Thal minor ( Beta) and my husband is Hb E.. so the child is E-Thal ( or Beta E Thal).Most Hb E thals are transfusion dependent. But I once heard  both Sir Prof. DR. David Weatherhall and Dr. B. Modell ( who are authorities on Thal) say that most times, if a E beta Thal has the spleen removed at an early stage, then they do get used a low Hb ( between 6-7) and can carry out a normal active life without further transfusions.
My daughter is Thal E..and after splectomy her transfuion rate has reduced to a large extent.. but her spleen was removed when she was 21. Dr. B. Modell had advised the removal of spleen when she was 10.. but it was not done then.
This is soley my experience.. so not an expert opinin.

shikha mitra

Hi all

Actually I am a bit confused after reading this post. Coz i had read somewhere if one parent is a beta thal carrier and one is an Alpha thal carrier, then there is no chance that the  child will be a major or intermedia like in my case. I am an alpha as well as beta carrier. My mom is alpha carrier and father is a beta carrier. iI  am  considered by doctors as a Minor. Infact if you do a normal blood test or electro, my traits are not evident as i am silent carrier. I was found to be a carrier when my son at the  age of 2.5 was found to be a thal intermediate. My DNA was done and then only I was found to be a carrier.

Now for my son he is a thal intermedia where he has inherited beta mild from me +alpha from me and beta ++ from my hubby.

I will appreciate if anyone can clear the confusion.

Hi, I'm new about this forum

I'm a Thal Int: I have a B-thal eterozigote whit a triple gene alpha (eterozigote too).
My Hb is hight (like 12, i'm a boy), but my first problem is the iron.

Hi,

Is Exjade available to you? You might want to try it instead of using Desferal.

Take care, Peace!

My Doct before decides the therapy wants to knov exactly epatic overload iron (with "laparatomia").
She tell my about a desferal or "salasso-therapy" (salasso-therapy is very strange to cure a thal int  )
The Exjade((ICL670) in Italy is use not usually, it is still to test

Hello C3nZo

Welcome to the group, i am sure you will like it.

What do you mean by salasso-therapy???

Manal

After playing with a universal translator, I found that salasso means "I bleed", so I assume salasso-therapy refers to blood-letting or phlebotomy, as a way to reduce excess iron. This is sometimes done in intermedias and also in patients who have had bone marrow transplants, but still have iron overload.

Salasso-therapy:  I have too iron in my body and my Hb is higher (i'm a male and my HB is like 12); my doct want to try to don't use desferal and she want to remove some blod to me, to increase the blody production and to use more iron  

Hi,
    I don't think that might be a good idea. It will not only remove excess iron from blood but also decrease your HB too which in turn will force your bone marrow to over work and stress your bones (deformation of brittle bones is an issue if you are still in growth and development age). Plus I've heard about bone marrow failure in old age due to overwork.

Any thoughts 

Take care, Peace!

Actually phlebotomy does work to remove excess iron from the body and is the standard course of treatment in hemochromatosis. which is an inherited iron overload condition. If the patient is able to maintain an acceptable Hb level, then blood letting can safely be done and it will help reduce the excess iron. However, dietary steps also have to be taken to reduce the amount of iron available to be absorbed by the gut. The Hb won't show any long term decrease because the body is able to make sufficient new blood.

Dear All

Our transplant doctor has indicated that blood-letting or phlebotomy would be conducted in the next 2 years in order to reduce the ferritin level of my daughter after the BMT. This is the faster and most effective way to get rid of the excessive ferritin in the blood.

Thank you.