First Inquiry

My name is Cindy and I'm just starting to look into Thalassemia. My father was diagnosed at the age of 70 with Mediterranean Anemia suffering from few symptoms other than really off blood counts. My brother has been on thyriod medication without any real diagnosis since he was a teenager. I have all sorts of symptoms and tests over the years, but nothing shows up. My symptoms in short: fainting since childhood, light headedness, always hungry, crave salt, pass out in the heat, during endurance exercise of any type my lower calves become heavy and fatque sets in and I feel faintish and if I don't stop I will pass out. This bothered me for years never being able to challange myself physically. As a teenager heavy periods made me passout and my doctor told me to eat a candy bar. Odd, but I don't like sweets. I have never been able to tollorate caffine or any stimulates including alcohol. My pregnancy was a nightmare in my third month I became very sick and they couldn't figure it out and I went into premature labor (preclamcia, help syndrome) at 28 weeks. After the birth of my son I had two attacks, and after two doctors were all set to operate I went for a third opinion and she told me it was acid reflux to avoid certain foods and I never had a problem again. My family dentist told me my saliva is acidity due to the acid buildup on my teeth as everyone in my family. All this was tolorable even though I love to exercise and feel I'm held back and have taken every heart test imaginable when I wanted to scuba dive and during a treadmill test at the gym my pulse went down when it should have gone up. Three years ago was the last straw. I'm a pretty clam and stable person so when I decided to get healthy and took on healthy eating, and added daily walking my hormones started to shift. Let's just say they were all over the place and it was a nightmare and all they could come up with was a biochemical imbalance and stuck me on the birth control pill. I'm not paranoid, but I knew something was seriously wrong and can't see how the brith control pill was good long term solution to delusions. The endrocrine doctor felt it my testosterone levels that went up, but since they put me on the pill she wouldn't be able to tell. I know the human body is complicated, but they all seem to be chasing tails and its up to me to figure it out. Maybe I'm grasping at straws here and none of this has to due with my fainting, does any of this warrent me looking into this further?

Hi Cindy and welcome,

To put it as basically as can be, you should have a hemoglobin electrophoresis test done if you have not had one done already. This is a simple blood test that will tell whether or not you carry thalassemia trait. I would also be interested to know what your hemoglobin levels were during pregnancy. Much of what you have experienced is commonly reported in thalassemia minors in this group, so it definitely should be investigated.

Thank You Andy for once. I will do what you suggested and check with my doctor, because the toxmia during my pregnacy was the worst the doctors had ever seen and it took two weeks to get my blood pressure down and I stopped at one child. Maybe had they seen me when I was complaining for weeks about feeling like I had a flue or a virus and couldn't eat it may not have come to that. Thank You.

Hi Cindy,

Please do get the test. I have heard many similar reports about pregnancies from thal minors but I don't want to assume anything without verification that you are a carrier. Meanwhile, do a search on this site for "thalassemia pregnancy" and you will see some of the problems thal minors sometimes face during pregnancy.

Andy, I need a little help. I called my primary care doctor and he told me he would do a CBC test that would tell him if I had thal. I pressed him to do the hemoglobin electrophoresis and ferriton tests. Sorry, I'm not sure on the correct spellings, but he seemed miffed at me. I would like to think he would want to get to the bottom of this since I have been driving him nuts for three years due to my exercise related fainting and hormonal shifts when I exercise. I know that sometimes doctors think patients overreact, but I know its not normal to faint during exercise or to have drastic hormonal shifts or practically die during pregnancy. Since my doctor appears to be reluctant I want to make sure I understand exactly what I'm looking for in these tests, because I don't want him to do them and brush it off. I want to know somewhat what I'm talking about. Even if you know of something on the site I can print out for him to help him I would really appreciate it. (Also, I have a little confusion around the iron issue, because couldn't that fluctuate especially for women during pregnancy and monthly hormonal cycles)? Example: my father's potassium and iron was high so he was advised to avoid foods with iron and take vitamin B complex, but not educated on thal at all. Thank you so much I really appreiciate this information.

Cindy,

Frankly, it is irresponsible for any doctor to not automatically test the children when a parent has been diagnosed as a thal carrier. All children should be tested, as should yours if you prove to be a carrier. Not testing can lead to the birth of thal majors when two carriers unknowingly have children, so testing is an absolute must. Your need to know if you are a carrier so your children know if they should be tested is more important than your doctor's ego. If he won't agree to the test, find a doctor who will.

If you can get the results of a hemoglobin electrophoresis test I can interpret what they mean, so please do get a printout of the test.

Thank you, for listening and for your advice.

Cindy,

If you have any trouble getting the hemoglobin electrophoresis, Boston has one of the top thal centers in the US. I am sure you can arrange the test through them if your doctor isn't cooperative.

Ellis Neufeld, MD
Phone: 617-919-2139
Fax: 617-730-0641
http://children.photobooks.com/directory/profile.asp?dbase=main&setsize=5&last=Neufeld&searchButton.x=31&searchButton.y=12&pict_id=9902250
Children’s Hospital of Boston
Boston, MA