Study Finds Thal Minors do Have Symptoms

Finally, both an admission that thal minors had never been studied and that they do indeed show symptoms, even when they are unaware they are thalassemia carriers. I really would like to see this whole study but I can only find the abstract.

http://www.ncbi.nlm.nih.gov/pubmed/18341640

Is the beta thalassaemia trait of clinical importance?

Premawardhena A, Arambepola M, Katugaha N, Weatherall DJ.
Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka. anuja@mfac.kln.ac.lk
Although the beta thalassaemia trait affects millions of people worldwide, there have been no controlled studies to determine whether it is associated with any clinical disability or abnormal physical signs. To address this question, 402 individuals were studied: 217 with beta thalassaemia trait, of whom 154 were aware of the diagnosis and 63 were unaware until after the completion of the study; 89 normal controls; and 96 controls with mild hypochromic anaemia. There was a significant increase in symptoms ascribable to anaemia and episodes of pyrexia in those with the beta thalassaemia trait that were not influenced by prior knowledge that they had this condition. There was no difference in physical findings, notably splenomegaly, between those with beta thalassaemia trait and either control group.

Please, please show this to your doctors when they say it's all in your head or you only think you have symptoms because you know you're a carrier. It makes no difference whether you know or not. The symptoms are very real and it's time the medical profession acknowledges this fact.

The full document is now attached to this post as a pdf file.


3/2/12  Added.
This is an old study from 1982. Why are most of the thal orgs and the medical profession sticking to the story that thal minor is asymptomatic? 46% of the thal minors studied were symptomatic.

http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1982;volume=28;issue=1;spage=4;epage=8;aulast=Agarwal

Year : 1982  |  Volume : 28  |  Issue : 1  |  Page : 4-8
Symptomatic beta thalassemia trait (A study of 143 cases).

Agarwal MB, Mehta BC

How to cite this article:
Agarwal MB, Mehta BC. Symptomatic beta thalassemia trait (A study of 143 cases). J Postgrad Med 1982;28:4-8

How to cite this URL:
Agarwal MB, Mehta BC. Symptomatic beta thalassemia trait (A study of 143 cases). J Postgrad Med [serial online] 1982 [cited 2012 Mar 2];28:4-8. Available from: http://www.jpgmonline.com/text.asp?1982/28/1/4/5608

  ::   Introduction       

Carriers of beta-thalassemia trait (BIT) can have varying degree of anemia.[6] Some of them have no symptoms and therefore can be detected only in a population survey or as a part of family study if other members are symptomatic or have thalassemia major. Others have symptoms for which medical help is sought. Anemia is not amenable to treatment. Therefore some of these persons are likely to present as cases of refractory anemia.[6] There are several haematological abnormalities in cases of BTT, e.g. raised Hb-A2, raised Hb-F, decreased osmotic fragility and abnormal red cell morphology. However each one of these may be normal in a significant proportion of BTT cases.[6] Here we report the clinical and haematological data of 143 symptomatic cases of BIT diagnosed on the basis of raised Hb-A2. Raised Hb-A2 has been accepted as a reliable criterion for the diagnosis of BTT.[6]

  ::   Material and methods       

Patients with anemia (Hb < 14.0 g% in males and < 12.0 g% in females) with no evidence of "nutritional deficiency", renal or hepatic derangement (normal urinary findings, blood urea, SGPT and serum protein electrophoresis) or chronic infection were taken up for study. Hemoglobin (cyanmethemoglobin method). Hb-F (Singer's method),[5] Hb-A2 (paper electrophoresis),[1] red cell morphology and osmotic red cell fragility[2] were determined in all cases. Patients were labelled as beta-thalassemia trait only if they had Hb-A2 > 3.5%. Hb-F of > 2.0%, Hb-A2 of 3.5% and hemolysis of < 55% at 0.4% buffered saline were considered abnormal.[2] Presence of hypochromia, anisopoikilocytosis, target cells, basophilic stippling and normoblasts in the peripheral smear, either singly or in any combination was considered abnormal.[2]
Cases of BTT usually have a mild disorder. The severity was said to be intermediate if they needed more than occasional blood transfusion (5 cases), they had splenomegaly beyond 10 cm (4 cases), non-healing ankle ulcers (3 cases) or haemochromatosis and its complications (2 cases). Other causes for severity of anemia, splenomegaly and ankle ulcers were carefully excluded.

  ::   Results       

Over the last 11 years, using the criteria described above, 143 cases were detected to have beta-thalassemia trait. Their community distribution [table - 1], frequency of symptoms and signs [table - 2] and [table - 3] and results of hematological investigations [table - 4] were studied. Frequency of abnormal diagnostic criteria is shown in [table - 5] while this data is compared with the data obtained from the asymptomatic beta-thalassemia trait (i.e. parents of patients suffering from proved Cooley's anemia) in [table 6.]

  ::   Discussion       

Over the last 11 years, 143 cases presenting for one or other symptoms were found to have beta thalassemia trait while during the same period, 171 asymptomatic persons were detected to have beta thalassemia trait during family studies of children with Cooley's anemia.[4] Majority of the cases belonged to Sindhi, Lohana, Maratha or backward communities.
Mean Hb level was significantly lower in symptomatic beta thalassemia group (9.66 ± 2.19 g%) than in asymptomatic group (11.3 ± 1.8 g%)4 (p < 0.05). Even in the symptomatic group, the hemoglobin level was lower in patients with palpable splenomegaly (8.92 ± 2.23 g%) compared to those who did not have palpable spleen (9.9 ± 2.13 g%.) (p = 0.05). Fifty eight patients had received hematinics [Iron] for long periods without significant benefit.
* Hb level and percentage of Hb-A2, were not compared as the first was the cause of referral in all the symptomatic cases and the second was considered as the only definite criteria for the diagnosis of BTT in symptomatic group.
Besides symptoms due to anemia, jaundice, pain in abdomen and hepatosplenomegaly seem to be common manifestations in symptomatic beta thalassemia trait, being present in 20-25% of cases. Abdominal pain and swelling were other common complaints. Clinical manifestations severe enough to label patients as thalassemia intermedia were present in 14 (9.9%) cases. Similar number of other patients had either more than one episode of jaundice or an episode of jaundice persisting for over 4 months. Leg ulcers were encountered in only 3 cases.
There does not seem to be significant difference in various diagnostic criteria in symptomatic and asymptomatic cases of BIT [table - 6].
Clinical varieties of heterozygous thalassemia are said to segregate in families.[6] However, all the 14 patients who had clinical picture of thalassemia intermedia had 1-3 relatives (parents, siblings) who had asymptomatic beta thalassemia trait. There is no satisfactory explanation for clinical variations in the families. Possibility of environmental factors and/or interactions with other genetic factors (nonthalassemia) cannot be ruled out. Variable penetrance of gene has also been postulated to explain such and other differences.[3]

  ::   Acknowledgements       

We thank Dr. C. K. Deshpande, Dean, K.E.M. Hospital for permission to publish the paper. The work was supported by grants from Seth G.S. Medical College and K.E.M. Hospital Research Society.
  ::   References       

1.   Black, M. B., Miller, H. and Wan, J.. Quantitative determination of haemoglobin A2 by filter paper electrophoresis. Tech. Bull. Registry & Med. Techn., 36: 221-223, 1966.     
2.   Dacie, J. V. and Lewis, S. M.: "Practical Hematology". English, Language Book Society and Churchill Livingstone, London, 1975, p. 202.     
3.   Hammond, D., Sturgeon, P., Bergren, W. and Caviles, A.: Definition of Cooley's trait or thalassemia minor; Classical, clinical and laboratory hematology. Ann. New York Acad. Sci., 119: 372-389, 1964.       
4.   Mehta, B. C., Agarwal, M. B., Kurlekar, N. and Varandani, D. G.: Diagnostic criteria of beta thalassemia trait. Study of 171 parents of patients with Cooley's anemia (In Press).       
5.   Singer, K., Chernoff, A. Z. and Singer, L. Studies on abnormal hemoglobin; their demonstration in sickle cell anemia and other hematology disorders by means of alkali denaturation. Blood: 6: 413-428, 1951.     
6.   Weatherall, D. J. and Clegg, J. E.: "The Thalassemia Syndrome". 2nd Edition, Blackwell Scientific Publications, Oxford, 1972, p. 109. 

Thanks a lot Andy,for finding this research,finally its official now that we as thal minors do face problems due to it,i hope this knowledge will reach and be accepted by the doctors soon.
I also recommend showing this to our docs.

Zaini.

Thanks Andy,

Many people will benefit as a result of this study.  Thal minors need to be taking supplements to alleviate symptoms caused by thal trait - hopefully doctors and patients will realize that now. 

Sharmin

The full study report is now attached to this post.

Thank you Andy.

hi guys,thank god I not just imagin thinks  were can I find this artikel I want to print it out and show it to my dokter,
My father got a check up and they found he had it to
gr Maria

i didn't find out that i was a carrier until i was in my ninth month of pregnancy with my daughter.  my doctors said that i had not shown outward signs of being a beta thal carrier so they never tested me for it.  my husband knew he was and now our beautiful baby girl is a beta thal inter.  she's been doing wonderful and has been receiving transfusions every six to 8 weeks since she turned one.  she is now 17 months old.  i thank God everyday that she is the way she is.... happy, beautiful, healthy, and the joy of my life but i can't help but think if i had only known i was a carrier before i had got pregnant.....

Hi mommyoffizie,

Welcome on the forum,glad to have you with us,and i am really happy to see your attitude towards thal,i know it can be hard to accept and it takes time,but positive attitude is all what you need,it will help your child grow healthy ,both mentally and physically.

How do you know your baby is thal inter? Did you do DNA testing?

Zaini.

Zaini,

Thank you for the welcome.  Yes, we did genetic testing on myself, my husband, and our daughter and that is how we found out Izzie is beta thal inter.  Like I said she is doing wonderful and the absolute joy of my life.  We have a great team of medical professionals following her (We go to the Tomorrow Fund Clinic at Hasbro Children's Hospital) and they really have set up all the resources we could possibly ever want.  More importantly, they have helped us, thus far, to raise a totally beautiful child.  I have high hopes for my girl and you are right.  A positive attitude goes a long way.  It was a hard pill to swallow in the beginning.  A lot of tears and a lot of guilt but I'm at that place now that I have to be strong for Izzie.  She is what is most important.

Hello all,

I am very interested in this report.

I am sorry. I clicked on the link and only got the abstract.

How can I find the full article?

thanks!

The file is attached to the post at http://www.thalassemiapatientsandfriends.com/index.php?topic=2769.msg26797#msg26797 and titled
"Is the b thalassaemia trait of clinical importance.pdf"

Thank you!

I didn't see it there for some reason!

Awesome info!

It has always been one of 2 things the doc says to me when I get blood work done


"I don't know if I need to admit you or treat  you for this"
or
"*Shrug your just mildly anemic due to your...thal a ssema was it?" "Ok how do you spell that"

This will be good to circulate

What do I click to get the full-text article? I can't seem to figure it out. 

Nevermind, I figured it out!

I'm a thal minor who is CONSTANTLY exhausted. I take a two hour "nap" around 4 pm each day and then am ready to go to bed for the night at 10 pm.

I am not currently taking ANY supplements. I see folic acid and B12 are recommended. Should I get some updated blood testing? What should I ask for?