hi

  I have no idea if I have this disease.  My hemoglobin or hermatocrit-I'm not sure which tested low and doctors told me i did not have iron poor anemia.  I kept wondering to myself "well then what is wrong".  A year and a half ago I had a really bi**hy nurse practitioner who said that it could be thalessemia. Anyway I never did find out and I'm really nervous because I think she must have thought I had weird bone structure or why else would she assume thal?  Please tell me she made this assumption about the bloodtest and not my bone structure because i actually have been told i am beautiful and very pretty.  But i have felt a little paranoid reading some of the literature and some people's posts because i do have smaller features and I do have nice striking bone structure.  I also have body issues so I may be misinterpreting what this woman meant by saying that.  I am assuming it was based on a symptom and not my history and blood tests. Anyway I am really scared. I am 36 how could i never be diagnosed?  I didn't eat much as a child and experienced extremely traumatic events which were prolongued and it resulted in delayed physical development.  I did not grow taller to my full height 5'6 until my first year in college.  I graduated high school at 5'4.  I was 4'8 in eighth grade.  A lot of things contributed to my not feeling well most of them in my environment but yes my blood did test for a number of years low in one of the red blood cell components.  But i just had a blood test in January and i was not anemic.  Can the symptoms be intermittent.  Do I need to get diagnosed right away?  Is this disease progressive?  Did the site's founder die of this disease?  let me know.
Thanks.

Hi and to the site,

First of all let me tell you that there are two main versions of Thalassemia: Thal. major and minor of which Thal. major is the severe form of the disease.

The good news is that you can't be Thal Major as it is diagnosed very early at childhood and the child cannot survive without regular blood transfusions. So you don't have to worry about the serious stuff that goes along with this disease.

On the other hand you can be Thal minor which goes usually undetected in most cases but can cause some symptoms in other cases.

The severity of the disease can be found by taking a look at your blood counts.

If it is possible get a fresh Complete Blood Counts (CBC) checked sometimes referred as CP (Complete Picture) and post them here for the Expert of our site Mr. Andy to evaluate it and then give you a proper advice.

In the mean time you don't have to worry much if you are not suffering a lot

Hi,

A CBC and an hemoglobin electrophoresis should be able to determine if you are a thal carrier or if there are any other anemias at work. As Sajid has pointed out, you can't be a thal major. You should verify whether you are a carrier as thal is a genetic disorder and the genes are passed from one generation to the next. If you were to have children, they should be informed if they are carriers as the main danger occurs when two carriers have children and both pass the thal gene to the child. This child would then be a major. If your child carried thal and had children with another carrier, the possibility of having a thal major child would be 25%.

To set the record straight, the founder of this group, Lisa Cammilleri, was a transfusion dependent thal, but her death was caused by hepatitis C, which she contracted from a transfusion in the days before testing for hepatitis was in place.

Hi theblackswan,

After reviewing your blood tests, I don't see anything that suggests thal trait. Your MCV is much higher than what would be expected with thal trait and your other levels are all normal. If your hematocrit has tested lower in the past it may be an indication of iron deficient anemia or one of the other anemias such as those caused by B12 or folate deficiencies. If you could ask your doctor for results of your previous blood tests where all the readings weren't normal, it might shed more light on what the problem has been. An electrophoresis test would be able to determine if you have any blood disorder.

I don't know what would possess a nurse to tell you that you look like a thal without having some medical evidence to back up that statement. It is very unprofessional and can only serve to unnecessarily upset a patient. It was also a very inaccurate statement. A high forehead is not unusual and is not a reason to suspect thal. That determination should be left to the blood tests.

Hi Andy

Your MCV is much higher than what would be expected with thal trait and your other levels are all normal.

The MCV has been a concern to me. What i understood that the MCV is always below the normal level in thal minor/or trait whether silent carrier or not.  When my father and mother in laws did a CBC ( one of them is a thal carrier and was inherited by my husband) their MCVs were high . My father in law MCV is in the 90s and my mother in law is in the 80s.

Andy , any explaination??   

Manal

Hi Manal,

This has actually been studied (by the way, you ask really good questions) and the results confirm what I expected.

From http://bloodjournal.hematologylibrary.org/cgi/content/abstract/79/1/238?ck=nck

The relationship between the degree of microcytosis and the type of mutation carried by beta-thalassemia heterozygotes was investigated...Overall, there was a wide range of MCV (56.3-87.3 fL). In almost all cases, carriers of beta(0) mutations had an MCV below 67 fL, whereas all but a few beta(+) heterozygotes had MCVs above this cutpoint. Mean MCV of beta(0) carriers was statistically significantly lower than those of beta(+) heterozygotes. The various beta(+) mutations were associated with significant differences in mean MCV values. In contrast, all the beta(0) (null) mutations had virtually identical ranges of MCV. The results indicate that degree of reduction in MCV is directly related to the severity of the mutation.

I would say that one of your parents has a mild thal mutation, which is reflected in the high MCV. With the milder mutation passed on to Ahmad, his resulting condition is intermedia rather than major.

Thanks Andy a lot, your reply explained it all

Manal