Study Finds Thal Minors do Have Symptoms

Hi,

Vitamin D is another thing to get checked if you feel constantly fatigued,low vitamin D can contribute to tiredness and muscle cramps.

Zaini.

Hi Doctor Dani and welcome to the site

Please check the link below
http://www.thalassemiapatientsandfriends.com/index.php?topic=3005.0

manal

Dear Andy, you are not the only one having the sentiment, "all we are saying...give thals a chance..."!!!      thanks so much for sharing this info. --

 

This is a topic of interest to me because I have been diagnosed as Intermediate my whole life (i am 36), but in reality I have minor with symptoms.  I had a DNA test done 7 years ago that showed I was only a carrier.  I even went to Children's Memorial in Chicago and they like all the hematologist I have ever seen said "you don't have Thalassemia."  But after their tests they agree that I am only minor but because i have symptoms i am considered Intermediate.  My father is minor and my mother is not a carrier. 

My symptoms come and go.  I have yet to find someone who has shared the same medical history as me.  As of now I am treating my self with many vitamins and feel better than I have in years. 

My son is also minor and has a slight anemia.  He is healthier than I was at his age (he is 6) which is good news.  He does get sick more often than most kids, but bounces back quickly.   

thanks for posting the article. 

This is nice to hear.  As I was saying in another post, my doctor poo-pood my questions about thal symptoms a couple of years ago.  He told me by adulthood, my body would have adjusted to the low levels of oxygen in my blood and I shouldn't have any symptoms.  But like another poster, I could have a 2 hour nap after work and still go to bed at 10:00 with no troubles.

I still get the usual response from most doctors i meet - they look at me like I'm crazy. But I'm used to it now - and don't waste any more time where I know I wont get proper guidance or treatment. :-)

Dear MorelliLisa,
Regarding your previously diagnosed thal-intermedia -- have your hemoglobin levels always been within the normal range, given that you think it is thal-minor rather than intermedia?  Just curious, as the feedback from some doctors at a thalassemia center suggested alpha and beta globin testing to start out with to be sure whether one has thal minor or intermedia.

Thanks so much!

Thalfriend

What can I say? THANK YOU SO VERY MUCH for posting this! Very informative and helped to ease my concerns!

Something I ran across recently. This study was done in 1993. The findings are clear and are basically the same as what common sense will tell you. The severity of the mutation (genotype) has much to do with the the physical manifestation (phenotype) in thal minor. The more severe mutations, such as beta zero, can cause more problems in minor, just as they do in major. This is part of the explanation of why some thal minors do so much better than others. There are other factors, such as co-existence of alpha thal, which can moderate these symptoms. A person with beta zero trait who also has alpha trait, will typically have fewer symptoms than a beta zero who does not carry alpha trait. Those with the milder thal mutations will be likely to have a higher hemoglobin level and fewer, if any, symptoms.

http://sciencestage.com/d/792564/heterozygous-beta-thalassemia-relationship-between-the-hematological-phenotype-and-the-type-of-beta-thalassemia-mutation-.html

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Author:  Rosatelli C, Leoni GB, Tuveri T, Scalas MT, Mosca A, Galanello R, Gasperini D, Cao A.
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Abstract:Comment in:
Am J Hematol. 1993 Apr;42(4):408.
Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation.
Rosatelli C, Leoni GB, Tuveri T, Scalas MT, Mosca A, Galanello R, Gasperini D, Cao A.
Istituto di Clinica e Biologia dell'Et? Evolutiva, Universit? Studi Cagliari, Italy.
In this study we have correlated the severity of the hematological features to the type of the beta-thalassemia mutation [codon 39 (C----T), IVS-I nt 110 (G----A), IVS-I nt 1 (G----A), IVS-I nt 6 (T----C), IVS-II nt 745 (C----G), -87 (C----G) and beta 6 (-1 bp)], in a group of beta-thalassemia heterozygotes of Italian descent in whom we excluded the presence of iron deficiency or deletion alpha-thalassemia. The beta-thalassemia mutation was defined by dot blot analysis on amplified DNA with allelic specific oligonucleotide probes. We found that a) heterozygotes for beta+ IVS-I nt 6 and beta+ -87 mutations produce larger and better hemoglobinized red blood cells, and b) heterozygotes for beta+ IVS-I nt 6 and beta+ IVS-I nt 110 mutations have a less marked increase of Hb A2 levels as compared to heterozygotes for the other mutations investigated. These findings indicate that milder beta-thalassemia mutations such as the beta+ IVS-I nt 6 and beta+ -87, express also in the heterozygous state a milder phenotype as compared to beta o-thalassemia or severe beta+ thalassemia (beta+ IVS-I, nt 110). The Hb A2 levels, on the other hand, were not related to the severity of the mutation because of less marked increase was found in a mild (beta+ IVS-I nt 6) as well in a severe (beta+ IVS-I nt 110) mutation. From the practical point of view these findings should be adequately considered in carrier screening and genetic counselling.
PMID: 1536137 [PubMed - indexed for MEDLINE]

This is common sense that your phenotype would be related to your genotype, but most doctors on earth are not aware of this, which means, that you, the patient, have to try to inform the doctors.

My husband is beta zero with alpha trait and he does so much better than I.  His hg is usually around 13.5 whereas mine is around 10.4 - it makes a big difference.  This information explains why some thal minors do better than others.  If I think about it, my hg is close to my son's pretransfusion hg and my husband's hg is close to his post transfusion hg - it is a big difference.  There is a lot of variation between thal minors. 

Sharmin

Yes Sharmin, my husband and me are the same like you and your husband in terms of HB, but with different mutations. He is HB knossos codon 27 and i am IVS 1-6

manal

Hi Andy... and thank you. I stumbled upon this while googling before finding ThalPals. I told my Hemo-Onc doctor-friend about it (he is Greek, but escaped the gene), and he said he wished that clinicians perused these forums for valuable anecdotal info they provide to generate more studies and justify proper funding for them. Typically, a condition is not recognized if there is no pill to throw at it by pharmas—the backers of most med studies/clinical trials, as you know. Are there any nonprofits for rallying the med community to take charge and have symposia for these findings?

Hi Deb ,
  ..


Umair

Hi Guys,

I'm new to this. Completely new!!! I have had thal trait for as long as i can remember. I'm now 22. I have never looked it up online because i was convinced by dr's and parents that it "isn't that bad"!! But now i have got to the point that i'm just a little bit sick and tired of it. I have been on ferrous sulphate (Iron tabs) since i was a little child, and have blood tests quarterly. I used to be fine, and suffered mostly from tiredness. Just recently (i'd say over the past year) i have been unusaully WRECKED and suffering from mouth ulcers, like extreme amounts. To be honest, without sounding weird, i genuinely feel like im slowly getting worse. I have been assured that this cant be to do with my thal, and so it makes me think that surely then there must be something else i have!? I have no idea now what to do OR think!!

Any input from you guys would be most appreciated. All my doc says to me is "Try eating more red meat" or "Drink more guiness" (because of the high iron).

Anyway, now i have stopped ferrous sulphate as my system and it did not get on too well. I have started taking Iron Vital F, liquid form, its based on fruit, veg and herbs.
Please just inform me on anything i can do.

I seem to want to do nothing but sleep. I have no get up and go, mine has got up and left!

Hannah xx

Hi Hannah,

You may have never needed the iron, as it has no effect on thalassemia minor. The anemia of thal minor cannot be corrected with iron, so the only reason you would need iron would be if you were also coincidentally iron deficient. Your doctor is uninformed about thal minor and frankly, giving you very bad advice. There is no value in eating lots of iron unless you need it. This can be determined through a group of tests all iron studies. This really should have been done as soon as it was apparent that iron wasn't changing anything. Long term iron use when not needed can actually lead to many physical problems, including organ damage. I would suggest asking for the iron studies to be done so you can determine your true iron load and whether or not iron is indicated. It would also tell you if your iron load has become high from the long term supplementation.

In 2008 the results of a study were finally released that showed that thal minors do have symptoms. This was really a ground breaking study, and one conclusion that was drawn was that more study of minors is needed. In this respect, our group is far ahead of the researchers in chronicling the problems associated with thal minor. You can see the study in an attachment to the post at http://www.thalassemiapatientsandfriends.com/index.php?topic=2769.msg26797#msg26797

You would be much better off taking B Complex, folic acid, vitamin E and probably vitamin D. Please look through posts in the thal minor section to get ideas on how people cope with the very real symptoms they do experience.