I have a few questions as I wait for test results...

Before I ask my questions, I just want you to know where I am coming from.
My mother was diagnosed with Thal Minor 2 years ago. She told me not to worry about it passing to me or my siblings because we were half white, therefore we can't get it. She said that the Dr. said he doubted we had it because of my father's ancestry (Canadian French). My mom also has selective hearing. From the sound of it, the Dr. thought she was referring to major or intermedia. She ALSO DIDN'T do ANY research about Thal. For two years, I didn't bother checking. Mom said she was't having any symptoms, so there was nothing to worry about. So, I figured, 'hey, the worst that could happen is that I'm a carrier. What are the chances of me meeting someone else with it even in their family?' I am an american, and less than 1% of american's have this in their family. That's out of over 303 million people. So, like any chicken, I didn't get tested because I didn't want to know. I didn't think I needed to...
...Then came the series of unfortunate events. 1) My very best friend (whom I love like a siamese twin sister) just found out that she has PCOS. She may need an egg donation. I will donate eggs, if I can. I looked up what I needed to do before I could donate, and one of the requirements was have tests run on things, like Thal. Genetic things. 2) That SAME weekend, I found out that my fiance`'s sister was just diagnosed with BTM (in her 3rd pregnancy). Really, what are the odds! 3) Then (as I waited for my Dr. appointment later that week) I found out that we both have a 50% chances of having BTM. So now, they have drawn blood and I should find out the results this week.
...So why am I worried? My life long symptoms cause me the worry. I want to be able to help my friend. I want to have children with my future husband.

My symptoms include:

• Chronic fatigue (I have my awake moments)
• dizzy /light headed (when I was a child, and a year after highschool, I would faint at random)
• My legs hurt more often than not
• my skin always itches
• my hands and feet are always cold and go numb
• Random depression spells (crying, feeling sad-for no reason)
• anxiety
• shortness of breath
• headaches (often)
• I easily get confused, forget things (short term), and lose my train of thought
• I have lots of pain in my joints (especially my knees and since I was a little girl)
• random racing heart
• I bruise easily, and they last a while
• I have those dark places around the bottom (close to my nose) of my eyes
• my mom told me that when I was a baby, I was always trying to eat ashes. Either cigarette or fire ashes.
• I can't seem to get my nails to grow in healthy

When I read this, I think I am nuts. I finally gave my Dr. this list, so I'm sure he secretly thinks I am nuts... My questions are:
1) He (my Dr.) checked my iron(at his office) and the results came back 'fine'. Does this put me in the clear?
2) Has anyone else had their iron checked with the primary care physician and had it come back fine? (it has come back borderline,often, in the past. I always check for iron because I 'seem' anemic)
3) Am I nuts?

I hope it comes back neg. for BTM, mainly because I want to be able to help my friend. I had my blood drawn last Fri. I will not know anything until Thurs. I just want to know what my chances are, for peace of mind, really.

Hi AlleyKat and welcome,

Your symptoms do all sound like thal minor but they could also be any other type of anemia, including iron deficiency. The first thing you need is more testing. A hemoglobin electrophoresis test will determine if you are a thal carrier (minor). Your color has nothing to do with it. If the gene is there, you will be a minor. All it takes is one ancestor to have had a thal gene for it to be passed on. Even people in far northern geographic areas are sometimes carriers. Your comment about the odds is right on. You just never know and that's how most thal majors are born. The parents never knew in advance. All carriers should make sure their partners are tested before conceiving children. We have two moms in this group who are cousins and one has a thal major child and the other has a thal intermedia, yet the thal genes they have are not from common relatives. The coincidence is amazing but it happened. The two moms' mothers are sisters and they each married a thal carrier so each of the moms is a carrier but the thal genes weren't from their common relatives (their moms). Each of the moms, in turn married carriers, so even though both babies that have two thal genes are cousins, neither of their beta hemoglobin genes matches the other's. The whole point is, both partners need to be tested if there is any possibility of being thal carriers. If you get tested to be an egg donor, you will find out definitely about any problematic genetic traits you may carry.

Do you know what tests your doctor ran and what the results were? Iron can only be accurately measured by a group of tests called iron studies. A hematocrit will not diagnose iron deficiency. Because of your long term symptoms you should have a complete blood count done, along with the hemoglobin electrophoresis and iron studies. If your regular doctor isn't cooperative, try to see a hematologist. If it is thal minor, you can expect to be told that thal minor has few if any symptoms. This is not true as you will quickly notice when reading through posts on the minor section of this board. You mention your iron often being borderline. Do you know what test was used to come to that conclusion? Iron won't help a thal minor unless iron deficiency is also present. One has nothing to do with the other. You are not nuts, at least for anything related to this. If you're like most of us, you probably are a little nuts otherwise.     Just kidding.

Andy 

ZAINI.