Hello from England

Hi all,
Sorry if this is the wrong place to write. I have had a diagnosis of 'possible Alpha Thalassaemia trait' for the last 7 yrs (since pregnant with my 3rd and last child). I was visited by someone who explained I might be carrying it and they gave me a little card to keep and I thought nothing of it. I have been battling iron deficiency anaemia most of my adult life but being a woman there seemed to be many other reasons for that (all now taken care of). However it's all come up again as I have been battling various undiagnosed symptoms (mainly constant nausea). My gastroenterologist has come to the conclusion I may have Alpha Thalassaemia trait which accounts for my low MCV (69) and MCH (22.2). My haemoglobin is normal! He wants me to go on iron supplements which I thought you shouldn't go on if you have alpha thal. There is no evidence of haemoglobin H in my tests. Ferritin is also low. I have no other clear reasons to be iron deficient. I don't know what to do or where to begin. How do people get tested for alpha thalassaemia? What should I ask for?None of my docs seem to know what to do. Do you get symptoms if you just carry the trait? Sorry if I am asking the wrong questions in the wrong place. Just any advice would be appreciated as I am not getting anywhere! THANK YOU!

Hi Unsure,

The only sure way to test for alpha thal trait is a DNA sequencing test, which can reveal the exact type of alpha mutation you carry, if you are a carrier. If your Hb level is normal, your low MCV and MCH do indicate the possibility of alpha trait, but only the DNA test can confirm this absolutely, as you will not normally see any hemoglobin H in an adult carrier. Also, if your Hb is normal, it is futile to be taking iron and is actually contraindicated in alpha trait.

With the number of possible alpha carriers we have heard from recently, who are told they suffer from iron deficiency, I am beginning to believe that iron panel testing is not sufficient to determine iron deficiency in alpha carriers, as none of the members who have brought this issue up have seen any change in iron levels with the use of iron supplements. With your Hb being normal, I have to believe that ferritin tests and serum iron tests are not giving an accurate picture of iron status. If a one month course of iron shows no change, it is unlikely that iron deficiency is present. Iron has always been warned against in alpha minor because alpha minor and iron deficiency look so similar in tests. If you have any other results from a complete blood count, it might shed some more light on your status.

One thing that is universal with alpha thal is that the only thing that is known to help is folic acid supplements. Iron cannot help unless iron deficiency is indeed a reality. I would also suggest that you get your diagnosis confirmed, as this is important information for your children who may also be carriers. They need to know before they choose to have children of their own, so they can make sure their partners are tested before having kids. If you are confirmed as a carrier, your children should also be tested. This may have already been done at birth, as this is routine in many countries.

HI Andy
Thank you for your help. My Hb is 12.1. I can't remember when it was this high, usually was around 10 and when pregnant... 7. But I suffered from heavy periods (sorry to be so blunt) for so many years and finally had polyps removed this past February and ablation. Since then my HB has improved but not my MCV or MCH. My serum iron is normal at 5.2 but my total iron binding capacity was raised at 82 and transferrin saturation reduced at 6% (I'm getting this off my letter... I don't understand any of it!) Apparently the transferrin itself is normal at 3.26. Ferritin is 9.7.

My gastro said there is mild iron deficiency without anaemia (which I really don't understand!) I am surprised that after all these years my various docs seem ok to just say I may or may not carry this when surely it's important to know one way or another. I will try to push for further testing as I have 3 children and want to be sure we know all our family history (on a side note... I am mixed race (african/white)) so not sure if that makes a difference?

I do really appreciate your time in answering my message. Thank you for your advice.

I really think that the issue of alpha thalassemia trait and iron deficiency needs much further study. But thal minor in general has been barely studied, so we have little choice but to compare similar reports that we hear here. I am troubled by the number of possible alpha thals who are also being diagnosed with iron deficiency, and it makes me wonder what is missing from the testing picture. In some of these cases, it may be an ongoing blood loss that has clouded the ability to get an accurate diagnosis. It may be that iron supplements have corrected the anemia seen in low Hb, but the iron stores themselves have not been replenished, resulting in confusing blood tests.

There are a couple other tests from a CBC which might shed a bit more light. These are the RDW (red cell width) and red blood cell count. If you also have these results, it might help clear the picture a bit, but in light of the past blood loss issues, which another member has also recently reported on, it makes it very difficult to know for certain. If you have any old blood work from before the polyps, this would be of help. Alpha trait is common among those of North African origin, and also whites of Mediterranean origin. If it is African origin, your children would most likely carry only one alpha gene if any, with the other three genes being normal. However, only DNA testing can tell for sure.

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=a-thal

Carrier states (αº-thalassemia and α+-thalassemia)

    *

      Beta-thalassemia. Whereas microcytosis and hypochromia are present in αº-thalassemia carriers, hematologically manifesting α+-thalassemia carriers, and β-thalassemia carriers, β-thalassemia carriers are distinguished by a high percent of HbA2.
    *

      Iron deficiency anemia
          o

            The αº-thalassemia carrier state and the hematologically evident forms of α+-thalassemia can be confused with iron-deficiency anemia because MCV and MCH are lower than normal in both conditions. However, in iron-deficiency anemia, the red blood cell count is decreased, while it is usually increased in αº-thalassemia carriers.
          o

            Though there is some overlap, individuals with iron deficiency anemia show a marked increase in red blood cell distribution width (RDW), a quantitative measure of RBC anisocytosis. The RDW is usually normal or close to normal in thalassemia.
          o

            The determination of the RBC zinc protoporphyrin concentration and iron studies (serum iron concentration, transferrin saturation) can be used to diagnose iron deficiency anemia with certainty.
          o

            Iron deficiency and thalassemia can coexist, complicating diagnosis.

We have had several members who are possible alpha carriers and who also show deficient on iron tests, but iron does not seem to affect any readings. Have you seen results from taking iron supplements? This also is affected by ongoing bleeding, so only the period since bleeding has ceased would have much relevance in determining if iron is doing anything for you.

Also, from the above link, concerning testing of siblings and children,

Related Genetic Counseling Issues

See Management for information on testing at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

    *

      The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
    *

      It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who have HbH disease, are carriers, or are at risk of being carriers.

I cannot overemphasize the need for testing children if you do prove to be a carrier. This goes for any alpha carrier that may read this post. If you carry two alpha thal genes, your children need to be tested. Alpha major mostly results in fetal death and danger to the mother's health. A few alpha thal majors have been saved by transfusion in the womb, but it is a risk to the mother's health and life, and just does not seem to be worth the risk. Being informed can make all the difference.

HI again

I really appreciate your time and effort in explaining everything to me. I personally don't have old blood test results but my doc has shown them to me from my records and said that she's never known me to have normal levels of MCV and MCH, iron etc. in all my years going there. This has included times when I was pregnant, not pregnant, before and whilst having polyps. In fact I remember being put first on iron when I was 20 (am now almost 37!). It's something I seem to have always battled which I put down to heavy periods. However, in my last pregnancy my hemoglobin was down to 7 and they were threatening transfusions before and after my c-section but I managed to avoid it.

I went to my GP today and explained all of this again. She has decided NOT to put me on iron for now but to leave it and re-test blood in a couple of months to see if the MCV and MCH increase as my Hb has done since the polyps removal. If no change she's going to refer me to a hemotologist to get a firm diagnosis of whether I am a carrier so we know what we are dealing with and how to help my kids before they start having their own families! Thank you again for your help and information. It's given me strength to keep pushing for definite answers!