thal characteristics

I have read on this message board about "thal characteristics."  Please somebody tell me what they are because I would love to know.  thanks, angie

Hi Angie!

What characteristics are you talking about? Are you talking about the physical appearance such as facial deformation, belly enlargement, skin tone and late puberty etc?

Please confirm it and we will give you the answer in detail.

Take care, Peace!

I'm referring to the physical characteristics.  I read a reply to one of the messages on this messageboard where a person commented on a girl's physical appearance.  The reply stated that the girl had physical "thal characteristics."   thanks, angie

The physical characteristics of thal might include protruding teeth, what is referred to as rodent like face, a large forehead, noticeable bone deformities in the face and head, short stature, small lower trunk...legs and hips...all of these being more prominent in thals who were not transfused sufficiently early in life. Adequate transfusion and proper iron chelation eliminate most of these abnormalities.

For a technical description, see
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8190918&dopt=Abstract

Up to the mid-1960s, beta-thalassemia was treated with blood transfusions as frequent as needed to keep symptoms under control and to prevent transfusional hemosiderosis. In the following years, high transfusion regimens and iron chelation therapy with desferrioxamine were used. Because of these different treatment modalities, skeletal findings in thalassemia have markedly changed. In the past, thalassemic patients treated with a low transfusion regimen and without chelation therapy developed osteopenia--with widened medullary spaces, cortical thinning and trabecular atrophy--secondary to chronic expansion of red marrow, due to increased erythropoietin response to chronic anemic hypoxia. Typical radiographic patterns in the skull included widened diploic space, atrophic-especially outer--tables and, in some patients, the "hair-on-end" pattern. As for the face, obliteration of the paranasal sinuses and the typical "rodent facies" were observed. In the ribs, bulbous expansion of the posterior and anterior segments and the "rib within a rib" patterns were observed. As for the spine, coarse trabecular arrangement was seen. The "cobweb" pattern was seen in the pelvis and finally the lack of the normal concave outline was observed in the long bones. In the patients treated with high transfusion regimens and iron chelation therapy over the last 30 years, both skull anomalies and disfigurement are less frequent. The skull is almost normal, with the exception of osteopenia and thickened diploic space in the frontal bone only; the paranasal sinuses are usually not obliterated. The hands and rib are normal, just like long bones, pelvis, scapulae and vertebral bodies. Nevertheless, in some adequately treated patients new skeletal features have been recently observed in the long bones, which are similar to those occurring in rickets and/or scurvy, and in the vertebral bodies, resembling platyspondylia. These abnormal features might be caused by several factors--i.e., marrow expansion, transfusion regimens, direct/indirect effects of desferrioxamine, iron load, endocrine abnormalities, deficiency of some minerals and finally dysvitaminoses. Nevertheless, osteopenia remains the main negative factor of thalassemia.

Hi Angie!

Well in my opinion, this is better referred as "Thal. gone bad Characteristics"

You see, if you keep up with the treatment, then there might be no such complications at all, even for Thal. Majors.

Well anyway, apart from the bone deformities that Andy has described so well in detail, you can also add the enlarged belly, delayed puberty and grayish skin-tone to the Thal. Characteristics. These are as a result of noncompliance with the Iron chelation therapy. Our body has no natural mechanisms to remove the excess iron that we get from blood transfusions. As a result, this excess iron starts getting deposited in different organs causing organ damage.

The Iron deposit in the endocrine glads can cause hormonal unbalance and result in various problems such a delayed puberty which is also one of the visible characteristics of Thal. along with other disorders of the endocrine such as Diabetes etc.

Excess Iron is mostly stored in the Spleen and the Liver which results in their enlargement and thus you get the enlarged belly of child that is also visible characteristic of Thal.

Similarly, a grayish skin complexion is also a visible characteristics of Thal. which is also a result of Iron overload and deposit in the skin. Sometimes, this is attributed to a malfunctioning pituitary gland that is malfunctioning due to Iron overload. Either way, the dark skin complexion is a result of Iron overload in Thals.

All these can be avoided if the child is treated properly i.e given transfutions at a proper time keeping the HB within the normal range and the Iron properly chelated.

Well, these are the ones that I can think of right now. Maybe you can point out other that I have missed and I'll try to give an explanation of it's reason.

Take care, Peace!