next »

[judyp]

 although it has been a year since he was diagnosed, i just got the detailed lab results from my 3 year old son's hemotologist. My son was diagnosed with alpha minor thal..described as being "homozygous positive for -alpha3.7"...his hemoglobin levels varied in a couple of the tests that we had...  11  and  11.7....i was originally advised not to worry about it until my son wanted to have children...but i have been investigating it more and more now since we are having some concerns about his health...what exactly does his desrciption mean...when i research it, he is not supposed  have any symptoms...

[Andy Battaglia]

Hi Judy,

There are four alpha globin genes, consisting of two clusters, each with two alpha genes. When both genes in one cluster are deleted, it is heterozygous. When one gene from each cluster is deleted, it is homozygous. This means your son has one normal alpha gene and one deleted (-α3.7) gene in each of the two clusters. The -α3.7 deletion is a very common alpha thalassemia deletion. It has long been believed that this thal minor status had no symptoms, but a study done in Iran concluded that many cases of alpha thal minor were misdiagnosed as iron deficiency anemia, when in fact, the anemia was caused by thalassemia.

http://www.ams.ac.ir/AIM/0144/neishabury0144.htm

Conclusion-This study suggests that the -a 3.7  deletion is a common cause of microcytic hypochromic anemia in Iran. The results are in accordance with previous studies, which report a remarkably high frequency of -a 3.7 in the Middle East. Routine screening for this mutation will improve the molecular diagnosis of anemia in Iran.

This is actually quite an admission because anemia does have symptoms and previously, there has been a great unwillingness by the medical profession to admit that the thalassemia minors are symptomatic in many cases. A major problem has been that alpha thal carrier and minor are difficult to diagnose, and this article implies that it has often been diagnosed as iron deficient anemia based on symptoms and Hb level. I think as more study is done, that we will see more admission that both alpha and beta thal minor can be symptomatic. Was your son's -a 3.7 diagnosis based on a DNA analysis?

Have food allergies and celiac disease been investigated? Does he complain that his tummy hurts?

[judyp]

thx andy..very helpful...when i looked up the symptoms of iron def. anemia, i found some of the issues we are having with my son...particularly the eating issue...so i believe it is as i suspected all along that it is the thal. that is causing some of our concerns...by the way, he does not appear to have any stomach distress...i am familiar with celiac disease and he does does not seem to have those symptoms)..i think it's the thal.....

[judyp]

also, andy...he is adopted, bio father unknown..bio mom missing...so no dna analysis

[Andy Battaglia]

Hi Judy,

His hemoglobin level is just slightly lower than normal, which is to be expected, but it's not low enough to be causing many problems on its own. And since alpha thal minor is not much different from beta thal minor, I would like to ask other parents here if they have had problems getting young thal minors to eat and also what solutions they have found. If he doesn't complain of stomach aches, there is no apparent reason for his small appetite, there may be something abut thal minor that decreases the appetite, at least in some kids.

Parents, any input?

[Moik]

My mom was telling me I hardly had an appetite when I was younger..I actually didn't have much of one till I was like 20...also that I would have like a certain vegi that I would eat for a month then almost like clockwork change my tastes..haha

[Prets]

Yeah I do that too..  even now, for days I prefer a certain food, then switch to the next favorite.

Always a poor eater, so its easier to have tiny meals every few hours. I would imagine I have a tiny tummy that refuses to let food in, and refuses to expand to allow me to have larger meals.

The massive hunger i feel at times, usually leads to me being totally FULL, even though i may NOT be satisfied with a few spoonfuls of food. To avoid feeling sick, i always have to stop eating.

As an adult I am aware of this, so i do it consciously. Kids may just stop eating when the discomfort sets in. Not sure.

Earlier I felt it was because of the gluten intolerance, but I'm gluten free now, and still cant eat enough.

Maybe its just one of those things we dont have enough reserch about . yet.

:-)