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.