Alpha Thalassemia Trait

Hello,

I found your fantastic site whilst trying to find out about alpha thalassemia trait as my Mum has just been diagnosed with it. She is 60 and has for the past year been suffering from fatigue and breathlessness, she is also very pale. Complete blood count and HB electrophorosis showed she had a microcytic anemia and her Doctor has told her it is Alpha trait and to just live with it. In the past she has been very iron deficient following pregnancy and miscarriage.

I understand I have a 50% chance of having inherited this from her and am awaiting results from a HB electrophorosis test. I have the same symptoms as my Mum but also have abdominal pain, joint pain, headaches and intolerance to cold (particularly my hands and feet). I recently had my gallbladder removed due to chronic cholecystitis and numerous tiny gallstones and afterwards suffered from 3 different infections (chest/wound/sinus) and am still very fatigued although the operation was done in Feb. Although I'm only 40 (but look much younger!) I've had episodes of fatigue for many years along with recurring infections and mild depression. My ferritin level is currently 311(ng?) having risen from 258 last July (UK lab range 20-250). The hematologist thinks the ferritin may be raised due to infection but hasn't ruled out iron overload just yet although she normally sees levels of > 1000 in iron overload. I have read somewhere that Alpha trait can be associated with iron overload and wondered if anyone had personal experience of this and what their symptoms were???

Any info on Alpha trait and symptoms would be much appreciated.

Thanks very much

[marientina]

Hello and welcome!

Alpha thalassemia has some interesting differences from beta. It is reported that alpha thal patients are more prone to overload, and also because alpha involves two genes from each parent rather than one, it has alot more variation. You may be on the border of intermedia/minor and as you age it may become more evident.

Your iron is getting to be on the high side for a woman. What is your TIBC and hemoglobin?

I recommend you contact your local thalassemia center after your electrophoresis tests.

[mritchie]

Welcome to the forum.

I was diagnosed with alpha thal trait two years ago, but my ferritin is very low so I am also iron deficient. From what I understand, iron overload in alpha thal is for the people who have blood transfusion or who take iron supplements without getting their ferritin checked.

I have had the following symptoms: upper right abdominal pain, heart palpitations, vision problems, shoulder pain, restless legs, and sleep disturbances. I don't know if these are from the alpha thal trait, from the iron deficiency or something else (I have had numerous tests, but I am always told that I am very healthy). I am taking supplements to try to correct the iron deficiency. I had a ferritin of 12 in December and now I am at 20. The abdominal pain, restless legs and the heart palpatitations have improved with the slight increase in ferritin.

My son had some blood tests in March because he had abdominal pain for 5 weeks with a high fever. The doctor thought he had appendicitis, but it wasn't. His Hgb, MCV, and MCH were borderline low. We were told to give him iron supplements for 2 months and to come back so they can run his CBC again and if the values don't increase they will check him for alpha thal.

I found this site that shows the values of mcv, mch, hgb and electrophersis for the different types of alph thal. http://www.ncbi.nlm.nih.gov/bookshel...ne&part=a-thal

Keep in mind I do not have a medical background so this information is based on personal experience.

Hope this helps.

[Narendra]

Alpha thal trait is a bit confusing to diagonise. It is good that you have already got tested and are awaiting results. It would also be a good idea to let your siblings(if any) know that it would be a good idea to get tested to see if they inherited the thal trait or not

Interestingly, I heard from a thal knowledgeble doctor regarding some thal carriers might have issues with gall stones and after reading your post, I can relate it. He went into the medical details of the microcyctic RBC's in excess and sometimes forming the stones. Although, I did NOT understand in details and would have to research about it a bit more

mritchie --> that was an informative link for alpha thal. Thanks. What are you giving your son for Iron? Is it tablets or are you giving him Iron rich food? Keep us updated on him

To the original poster, in addition to the link mritchie has mentioned, this link also has some more info on alpha thal trait - http://www.andorrapediatrics.com/ap_...halassemia.htm

[mritchie]

The doctor prescribed 200 mg of a liquid iron. We gave him ¼ of that because 200 mg seemed like a lot for him to tolerate. After two weeks, he got real weird around bedtime. He was afraid that the house would burn down and that he wouldn’t get his blanket or stuffed animals out of the house. Lots of crying so we just give him a multi- vitamin with iron twice a day. We have also added raisins, nuts, meats and juices with vitamin C to his diet. He seems to be doing better.

He has never been much of a meat eater since he was a baby. He was also intolerant to many foods. We worked with a nutritionist so that he can now tolerate most foods. Green beans, peas, and barley are the only things we have not been able to add back into his diet.

My hope is that the numbers are low due to a grow spurt. I may use the nutritionist again if the numbers don’t improve. I will keep you posted on the outcome of his tests.

[Narendra]

The doctor prescribed 200 mg of a liquid iron

I hope he is using a straw for liquid iron as drinking it directly may stain his teeth. Also, it might be a good idea to mix the liquid Iron with lot's of water or juice

[mritchie]

Thanks to other posts on this site, I had read about the staining of the teeth. We used a syringe to get it in the back of the mouth. We also made him drink lots of water and brush his teeth right after we gave it to him. The muliti-vitamin that we give him is a chewable.

For mritchie and narendra,

Thank you both for your responses, the sites you mention were really interesting.

Mritchie - do you know what your MCV, RBC count and Hemoglobin levels are? My Mum's are 69, 5.93 and 13.2 respectively (ferritin 88) and the Hgb of 13.2 seems quite high compared to some of the levels quoted on other threads although I guess most of them are Beta. The hematologist I saw only did a protein electrophoresis on me and not the hemoglobin electrophoresis I was expecting. It turns out my complete blood count is unremarkable although my MCV is 84 (range 83 - ??) and they don't think I will have inherited the trait. My Nan was also tested via hemoglobin electrophoresis and was told her blood was perfect so I guess she is possibly a silent carrier if at all.

For mritchie and narendra,

Thank you both for your responses, the sites you mention were really interesting.

Mritchie - do you know what your MCV, RBC count and Hemoglobin levels are? My Mum's are 69, 5.93 and 13.2 respectively (ferritin 88) and the Hgb of 13.2 seems quite high compared to some of the levels quoted on other threads although I guess most of them are Beta. The hematologist I saw only did a protein electrophoresis on me and not the hemoglobin electrophoresis I was expecting. It turns out my complete blood count is unremarkable although my MCV is 84 (range 83 - ??) and they don't think I will have inherited the trait. My Nan was also tested via hemoglobin electrophoresis and was told her blood was perfect so I guess she is possibly a silent carrier if at all.

[mona nori]

hi all
if anyone know the data of the result of hemoglobin electrophoresis mean

[mritchie]

When I was diagnosed with alpha thalassemia trait, my MCV, RBC and Hgb were 5.15, 77.6, and 12.8, respectively. My ferritin was 9. After taking iron supplements for ~5 months, my MCV, RBC and Hgb are 4.7, 83 and 13.6, respectively. My ferritin has increased to 20.

My hemoglobin electropherisis was all within normal range.

When I compare my numbers to the website link I gave you for alpha thal, I would guess that I am a carrier and not the trait the doctor diagnosed.

Hi,

Thanks for posting your results. What tests did they do on you to diagnose alpha trait? Some things I've read seems to suggest that the only true way of determining alpha trait is by dna tests yet others suggest hemoglobin electrophorosis can determine it. It all seems a bit hit and miss to me! I also found out from a specialist that alpha thal can cause an iron overload state even without supplements or tranfusion so that was interesting. They are going to re-check my ferritin in 4 weeks and if it's still raised I may be referred back to the hemotologist and perhaps then they'll do a hemoglobin electrophorosis test on me.
I hope that you and your son are both feeling much better.

[mritchie]

The only tests that I had were the CBC, an iron panel and the hemoglobin electropherisis. All of these were done by a internal medicine doctor. Because my iron ferritin was so low and I had restless leg syndrome, I went to a second internal medicine doctor to make sure the alpha thalassemia trait diagnosis was correct. The second doctor seemed very confident that I had alpha thalassemia trait and said not to take supplements. I am finally taking the iron supplements and getting the ferritin checked every 2-3 months. From what I understand, it is okay to take the iron supplements as long as the ferritin is monitored.

I was nervous about giving my son the iron that was prescribed because the doctor did not check his ferritin level. His CBC values were hgb 11.9, RBC 4.8, MCV 73.6, and RDW 13.7 I will have the doctors recheck the CBC and check the ferritin and hemoglobin electropherisis when I take him for his check up in a couple of weeks.

Another bit of information that I have gotten from this site is that the hemoglobin electropherisis can be inaccurate if the ferritin is low. I don't know where the ferritin needs to be to get accurate results. I think the A2 value can read low if the ferritin is low. Since my ferritin was so low when I had it I am not sure if my results are accurate.

My values were:

Hemoglobin A1 97.9% (the range is >96.0%)
Hemoglobin F <1% (the range is <2%)
Hemoglobin A2 2.1% (the range is 1.8-3.5%)

Well, good luck with your diagnosis and keep me posted with your test results. It would be nice to compare.