Thalassemia Patients and Friends
Discussion Forums => The Spotlight => Topic started by: C3nZ0 on November 27, 2006, 12:10:59 PM
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Hi, my name is Vincenzo (32 y) and write from Italy (I use google-traslate to help me to traslate, sorry :wink)
I'm a Thal Int "light". About 3 mounth ago, I thought to be a Minor, but after genetic test has notice I have a double eterozigote (b-thal & alpha anti3.7).(there are anyone like me here?)
I don't had need of transfusions (my HB is over 12), but now I have problems with iron overload... :mad
I have made not invade test to liver (like SQUID, http://www.ge.infn.it/~thalas/THALAS.htm), but the machine is experiences them the outcome is uncertain :huh , therefore they have decided to made a "laparoscopia" for hepatic biopsy (a small surgical operation with cut, removal, and seam :( )
For now is all, "Ciao a Tutti"
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Hi Vincenzo,
Welcome to the site! I hope you will find it very informative and all members very friendly and helpful. Please feel free to ask any question that you may have!
Take care, Peace!
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WELCOME VINCENZO!!!!
:hug
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Welcome Vincenzo.
I am sure you will like the site.
Why are you classified intermedia and your HB is 12?? Usually intermedias' HB ranges from 7 to 10??
Take care
Manal
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Why are you classified intermedia and your HB is 12?? Usually intermedias' HB ranges from 7 to 10??
Thanks to all for wellcome :biggrin
My trait is like a minor (hb is higher), but I have globule red more instable because I have less Beta-chains (b-thal eterozigote) and more alpha-chains (triplication gene apha eterozigote); my body make some blod, but the iron into GR come to my liver...
This July my "FERRITINA" was about 1000 ??? (but I don't never transfusion).
I was very confused about it, in a lot of documentation that I have read my situation is still mentioned...
My situation is very light for now (and I hope that don't change)
The 2 last week, my doct confirmed me that I'm a Thal Int (very light).
PS i have some problem with medical eng. words ... sorry :wink
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Hi Vincenzo,
Your ferritin (iron levels) is high because you body is absorbing more iron from food than it needs. You should be on a low iron diet and should also be drinking tea with your meals, as tea can reduce the amount of iron that your gut absorbs from food.
This case is a perfect example of what we are talking about in our thread at
http://www.thalassemiapatientsandfriends.com/index.php?topic=562.msg4162#msg4162
Hemoglobin Variants: Are You Really A Minor?
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Andy
Why is Vincenzo's body absorbing more iron though his HB is high? To my knwledge, iron starts to be absorbed in the guts as a result of low HB?? I can't understand???
Manal
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Manal,
That's a very good question. It may be one of several possibilities. His Hb may not be consistent at that level. It may have something to do with his odd gene structure, or even the blood that is being produced. The one possibility that should definitely be checked is if Vincenzo has hemochromatosis. This should be determined, as it is often not diagnosed and is much more common than previously suspected and can coincide with thal.
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My HB is "higher" but is however low (normally is over 14). This condition cause in me 2 problems:
1- I absorb more iron from my diet (like 50%; a normal people absorb lke 5%)
2- I habe a lot of Globale Red, but it life very less... therefore my body have some "GR died", and my liver try to clean my blody and clean up this GR whit its iron.
I have a "secondary hemosiderosis": is like hemochromatosis, but it isn't caused from genetic problems (I have readed a lot of documentation in italian languages about it)
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For those who are having a hard time following this discussion, I will try to summarize what Vincenzo has told us, and I do think this discussion fits right in with our discussion of hemoglobin variants and minor status. Vincenzo has both beta thal minor trait and alpha anti3.7, which is the most common of the alpha thalassemia traits. Alpha thal is the most common single gene disease in the world, found much more frequently than beta thal. Researchers are beginning to see that the combination of alpha and beta can produce problems beyond what would be seen with only one or the other of the types of mutations. This combination is causing chronic hemolysis, which is the premature destruction of red blood cells, in Vincenzo. Because of the loss of red cells (RBCs) his body is producing new red cells at a faster rate than normal, resulting in excess iron absorption in the gut, to feed those new RBCs. This has led to iron overload with a ferritin level of 1000. The doctor has suggested phlebotomies (blood-letting or taking of blood) as a treatment to reduce the excess iron. This is a routine treatment in hemochromatosis, and as we have occasionally heard here, has also been sometimes used as treatment for non-transfusing intermedias with iron overload. The advantage of this over desferal is there are no side effects or the inconvenience of desferal. The problem he is having with his liver is that the liver and spleen filter out these RBCs and the iron present in the RBCs has possibly caused some damage to his liver, so a liver biopsy is being discussed to determine the iron level and if there is any damage to the liver.
There is a very good scientific discussion that includes some information about this genetic combination at http://findarticles.com/p/articles/mi_qa3867/is_200210/ai_n9087640 What is very interesting is that the combination of this triple alpha gene with beta major actually decreases the severity of the thal, but when that alpha is combined with only one beta gene, as with Vincenzo, it worsens the condition.
The number of functional a genes present determines the clinical picture of the disease. The co-existence of alpha-thalassaemia (-alpha/(alpha)(alpha)) with two severe beta-thalassaemia determinants reduces the severity of beta thalassaemia major. However, coexistence of triplicated alpha-gene with beta-thalassaemia trait increases the severity of this condition.
Vincenzo, I will do my best to explain your posts to our members. Your case is very unusual and very educational. As I said before, a low iron diet and drinking tea with meals, especially iron rich meals is highly recommended.
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Hi Vincenzo,
Welcome to the site. We are happy to hear from you. :hithere Jean
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Perfect Andy :biggrin
It's explained very well and complite :wink
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Hello Andy
Thanks for the explaination. It is now very clear.
The only thing , i don't get is that This combination is causing chronic hemolysis, which is the premature destruction of red blood cells, in Vincenzo.
Vincenzo's HB level does not show this hemolysis. As he said, his low is 12, but he is usually 14.
HB is supposed the first indicator of hemolysis, isn't it??
Manal
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Vincenzo's HB level does not show this hemolysis. As he said, his low is 12, but he is usually 14.
HB is supposed the first indicator of hemolysis, isn't it??
Sorry is my bad eng. :(
My Hb is usually 12.
14 is the minimun value considered normal, but I'm always under that
Another value for emolisys is my LDH that is very hight (>700)
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Hi Vincenzo
I guess HB 12 is quiet good even if it is under the normal range. I mean it won't affect growth, bone deformation,......etc
Do we consider having HB 12 a case that suffers hemolysis??
Andy could you please shed some light on this issue
Manal
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The reason Vincenzo's Hb is only 12 is because of the hemolysis. It is destroying his red cells prematurely, causing his bone marrow to become overactive replacing them. Even though he is able to readily create new red cells and keep close to a normal Hb level, the hemolysis is taking place. His problem isn't low Hb. It is what this hemolysis leads to in terms of overproduction of RBCs and excessive absorption of iron from the gut to feed these new cells. The iron is the real problem he faces.
From what I read, certain mutations can create functional RBCs that are in some way abnormal (size, shape or surface abnormalities) and cannot pass through the filters in the spleen and liver, and are then destroyed by those organs. For simplification, compare it to a large truck full of food for the market, but there is a tunnel the truck must pass through to get to market, but the truck can't fit through the tunnel, and gets stuck and the food ends up going bad and then needs to be replaced. Even though Vincenzo's RBcs may serve to carry oxygen throughout the body, because of some abnormality, they are removed by the spleen and liver because they don't "fit" through the filters in the organs.