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Doctors freak over my sister having Thalassemia
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Doctors freak over my sister having Thalassemia

My Half Sister is a caucasian woman of German Ancestry, for years her Doctors tried treating her for severe Anemia, they nearly killed her.  She was kind of astranged from her father's family, but descovered that almost every member of her father's family had thalassemia, but when she told her Doctor's they where in disbelief.

Once the test came back positive they were shocked.   Since I have seen some other cases of such mentioned, in articles.  However Everytime she go's to a Doctor, she has to go through explaining, and they wind up retesting her constantly, always with the same results.  Why is there such a misconseption amoung Doctor's, I even seen a Doctor on CNN, SAY " Thalassemia is only in People of Asian, Mediterainean, and African decent"  We now know this is incorrect.  Because her father's Family is true German, BLONDE, BLUE EYES, PALE SKIN.

Why are Doctor's not being educated as to the possibility of this.  Both her daughters tested positive, one with the disease,the other as a carrier, this Daughter also has Lupus.  We would like to know what treatments are best, as well as Dietary suggestions, for managing this as well as Iron Overload
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419309_tn?1326506891
The highest percentages of people affected with thalassemias are not of Caucasian descent, but as you pointed out, there have been cases when that happens, though rarely.  Population genetics is not absolute -- it plots the frequency of diseases in certain groups of people, but there is nothing 100% in our understanding of the human gene.  It is infinitely variable, and nothing is impossible.  For the most part, the general medical community only works with "majority" factors and narrows things down from there.  Hopefully a correct diagnosis will help improve your sister's health.

I do want to point out that as a rule, thalassemias are a recessive condition.  That means that if your sister had classic b-thalassemia, her daughters would only be carriers unless their father was a carrier of or had thal as well.  Also, it would also be necessarily true that both your sister's parents had to both be carriers of thal, which would be highly unusual if they were both of German descent.  The fact that there are multiple generations affected also brings into question whether what your sister has is actually b-thalassemia or another hemoglobinopathy.  It might be worthwhile for your sister to consult with a geneticist and hematologist to confirm the genetic diagnosis and appropriate treatments.
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Hi!
I would like to share my insights since I as well have Thalassemia Minor.  I get the trait from the British side of my family, and when I say Brit, I mean like almost 100% Brit.  I have also had the same problem with doctors being in disbelief about this.  However, since it has been clearly illustrated that I and my mother, grandfather and other distant relatives have this disease, it is not refuted.  I want to let you know however with this disease doctors do make it a point to test blood frequently, to monitor blood count, iron levels, etc.  I get mine checked at least once a year, but usually have it checked every time I go into the doctor no matter what the problem is.  
The fact that your sister got sick from iron treatments does not surprise me at all, and I would like to share my thoughts with you on this.  Let me begin by stating that it is hard to find relevant information on this and a lot of my information comes from a long family history of the disease and what we have experienced.  Even though Thalassemia is a relative of anemia, iron supplementation can make our situation worse.  How my mother describes it is this:  those with Thalassemia actually have blood that is misshapen, and to the body it looks unhealthy.  (Actually, when my grandfather registered for WWII he was not allowed in combat because doctors at the time believed Thalassemia was a precursor to Leukemia.)  Because your blood does not look or behave the way it should, your body tends to dispose of the blood more.  As you may know your spleen takes the job of cleaning your blood and disposing the blood that is no longer good.  I know personally I tend to get cramps in the area of my spleen because it is overactive.  As a result your body is left with some of the minerals that was in that disposed blood.  This is why your sister got sick with the iron treatments.  Her body was disposing of her blood faster than normal people's would, and therefore had an over accumulation of iron.  This happened to my great uncle, after he was in a car accident they treated him this way and it nearly killed him.  My doctors always notice that I am quite anemic and suggest iron supplements, but it seems most are not educated in the fact that it can be dangerous to us since our body goes through blood so quickly.  
Some other things that also effect me which she may have problems with are shortness of breath and symptoms similar to hypoglycemia.  When my mother and I exercise, mainly cardio, we lose our breath quickly and experience asthma-like attacks.  I also feel very weak a lot of the time and feel sick if I do not eat on a consistent basis.  Again, more from word of mouth I have learned that our blood also does not absorb or carry oxygen or glucose like healthy blood should causing more health problems.  
The severity of symptoms most definitely varies from person to person, as I seem to have more and worse symptoms then my mother, and my mother seems to have worse symptoms then my grandfather.  Determining her level of severity and what is best for her is going to take some time.  It is a bit more difficult living with this disease then most resources will portray.  I wish your sister the best of luck and would also suggest that if and when she has children to have them tested right away to avoid all the trouble she has had all these years.  Hope this was of some help in understanding the disease and helping her manage her symptoms.  If she needs more help from a doctor I would suggest seeing a Hematologist rather than a general practitioner, who in my experience have little to no knowledge of what Thalassemia MINOR is all about, they are all educated on the MAJOR form because it is life-threatening.
Best wishes
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1636357_tn?1300258094
I find this interesting as I am a blue-eyed blonde of Scotch-Irish ancestry with beta thalassemia minor.  Nearly everyone on my father's side of the family has the trait.

I've noted that you (and apes1986) are both American (as am I).  Now, I am only speculating, but is it possible that there is someone in your family tree  - of whom you may not be aware - of Mediterranean descent?  I've considered that as a possibility, at least where I am concerned.

As for the British Isles, it is a fact that those from Greece, Spain and Portugal settled there.

As eureka254 pointed out, multiple generations are affected.  I think it would be difficult to determine that there wasn't someone of Mediterranean descent in your family tree.

I just posted a similar question and am curious to see if anyone concurs with my theory.
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