From Wikipedia, the free encyclopedia
Jump to: navigation, search
          This article is of interest to the following WikiProjects:
Wikipedia Version 1.0 Editorial Team / v0.5 (Rated C-class)
WikiProject icon This article has been reviewed by the Version 1.0 Editorial Team.
C-Class article C  This article has been rated as C-Class on the quality scale.
Checklist icon
 ???  This article has not yet received a rating on the importance scale.
Note icon
This article is Uncategorized.
Taskforce icon
This article has been selected for Version 0.5 and subsequent release versions of Wikipedia.
WikiProject Medicine / Hematology-oncology / Medical genetics (Rated B-class, Mid-importance)
WikiProject icon This article is within the scope of WikiProject Medicine, which recommends that medicine-related articles follow the Manual of Style for medicine-related articles and that biomedical information in any article use high-quality medical sources. Please visit the project page for details or ask questions at Wikipedia talk:WikiProject Medicine.
B-Class article B  This article has been rated as B-Class on the project's quality scale.
 Mid  This article has been rated as Mid-importance on the project's importance scale.
Taskforce icon
This article is supported by the Hematology-oncology task force.
Taskforce icon
This article is supported by the Medical genetics task force.
WikiProject Biology (Rated B-class, Mid-importance)
WikiProject icon Thalassemia is part of the WikiProject Biology, an effort to build a comprehensive and detailed guide to biology on Wikipedia.
Leave messages on the WikiProject talk page.
B-Class article B  This article has been rated as B-Class on the project's quality scale.
 Mid  This article has been rated as Mid-importance on the project's importance scale.
Note icon
It is requested that an image or images be added to this article to improve its quality.
WikiProject Molecular and Cell Biology (Rated B-class, Mid-importance)
WikiProject icon This article is within the scope of the WikiProject Molecular and Cell Biology. To participate, visit the WikiProject for more information.
B-Class article B  This article has been rated as B-Class on the project's quality scale.
 Mid  This article has been rated as Mid-importance on the project's importance scale.
WikiProject History (Rated B-class)
WikiProject icon This article is within the scope of WikiProject History, a collaborative effort to improve the coverage of the subject of History on Wikipedia. If you would like to participate, please visit the project page, where you can join the discussion and see a list of open tasks.
B-Class article B  This article has been rated as B-Class on the project's quality scale.
 ???  This article has not yet received a rating on the project's importance scale.
WikiProject Anthropology (Rated B-class)
WikiProject icon This article is within the scope of WikiProject Anthropology, a collaborative effort to improve the coverage of Anthropology on Wikipedia. If you would like to participate, please visit the project page, where you can join the discussion and see a list of open tasks.
B-Class article B  This article has been rated as B-Class on the quality scale.
 ???  This article has not yet received a rating on the importance scale.


Semantic US-centrism issue[edit]

Little trivial but near the start we get "Thalassemias are particularly associated with Arab-Americans, people of Mediterranean origin, and Asians." I assume that should just read Arabs unless it is particularly an issue with the Arab diaspora in the US as opposed to Arabs elsewhere. (talk) 08:53, 15 December 2007 (UTC)

QUESTION: What food to eat[edit]

What are the food the you can suggest for those person carrying thalassemia. THANK YOU!!!Tanmichelle (talk) 01:40, 28 February 2008 (UTC)

Please refer to and to your closest haemotologist. (talk) 22:24, 23 March 2015 (UTC)

Iran has the best screening and counseling program![edit]

"Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening."

see next refs:
- Haddow JE (2005) Couple screening to avoid thalassemia: successful in Iran and instructive for us all. J Med Screen. 2005;12(2):55-6 ([[1]])
- Samavat A, Modell B. Iranian national thalassemia screening programme. BMJ 2004;329:1134–7 ([[2]]) —Preceding unsigned comment added by P.solaimani (talkcontribs) 00:47, 23 September 2008 (UTC)

older entries[edit]

Thalassa is classical Greek for sea. Where does the name of this condition come from? --FOo 15:00, 31 Aug 2003 (UTC)

Is it???

The condition was first recognized in people living around the Mediterranean Sea, notably Italy, Greece and Syria. The term thalassemia was first mentioned (according to Oxford Dictionary) in an article by Whipple & Bradford in the American Journal of Disease in Children in 1932. The sentence "For this reason, the term thalassemia may have an appeal" suggests that it may have been used before this article. It's common in countries which have or have had experience with malaria and can be found in people living in central Africa, India and Southeast Asia. It has been recognized more often in USA after the influx of more than one million of Southeast Asian refugees since 1970's. Some people believe that thalassemia spread to Asia through Great Alexander's soldiers intermarriages as he moved East.

Interesting news

Other thalassemia: Delta Thalassemia, What makes it different from Alpha or Beta?[edit]

I have Delta Thalassemia and came to this page to find out more about it. What makes it different from Alpha or Beta?

Well, it's much rarer[edit]

Well, it's much rarer. The non-A/B thalassaemias have essentially the same problem as the others (anemia and iron overload) but it depends on the type and on whether someone only has the trait or is actually homozygote. Please carry on looking and bring useful information back to this page. Wikipedia can learn from your experiences. JFW | T@lk 00:32, 13 November 2005 (UTC)

--Marientina 07:08, 10 January 2006 (UTC) The best reference I foundo so far although still a little incomplete is in a pediatrics article in e-medicine

Delta Thalassemia is extremely rare[edit]

Delta Thalassemia is extremely rare, because while someone is still a fetus they have an alpha and delta chain, inseatd of an alpha and beta chain. When someone is born the delta chain is replaced by the beta chain and to still have the delta chain is extremely rare and when someone does have it, it is almost 100% likely that they will have thalassemia.

--Jbrintrup. In the phrase above there is a confusion between delta and gamma. Gamma globin forms fetal hemoglobin (HbF: two alpha subunits, two gamma subunits). HbF is present in healthy adults in minor quantities (less than 1% of total hemoglobin). Higher concentrations of HbF are present in some patients with beta thalassemia and/or beta hemoglobin variants (for example HbS: sickle cell hemoglobin) due to a compensation mechanism, and also in people with Hereditary Persistance of Fetal Hemoglobin (HPFH), which is actually a benign condition. Regarding delta-thalassemia: delta globin chains are found in form oh hemoglobin A2 (HbA2: two alpha chains, two delta chains). The total amount of HbA2 in adults is about 3% of total hemoglobin, and this is why even individuals homozygous for a delta thalassemic mutations are healthy. Delta thalassemia is also a benign condition, it is even possible that delta thalassemia might not be so rare: it is just not easy to detect, since people is healty. Delta thalassemia should not be confused with delta/beta thalassemias where both genes are affected. Such patients do have significant symptoms similar to beta thalassemia. Delta/beta thalassemias are caused in most cases by big deletions (many kilobases long) affecting both HBD (delta globin gene) and HBB (Beta globin gene).--Jbrintrup (talk) 12:30, 9 April 2010 (UTC)

Survey on Genetic Testing, Policy, and Treatment of Thalassemia[edit]

Our research group at the University of British Columbia has developed a survey on issues and policies surrounding genetic testing and treatment, based on the case of Beta-Thalassemia in Cyprus.

You are invited to take our survey at: (The number at the end of the url marks it as coming from this site; use this plain one if your prefer:

We would also like advice on whether it is appropriate to add a link to this survey to the main article. Pdanielson 17:28, 30 November 2005 (UTC)


I have beta thalassaemia minor, I can say with reasonable doubt that it has been asymptomatic and the only reason I was tested and diagnosed with thalassaemia was because my mother has it. Now I can’t remember off hand (I was child/teenager at the time) what testing the doctors did to identify it but I do remember them saying that my blood test showed I was “anemic” (as in generally) and had “low iron levels” I notice these noted here on wiki as symptoms of alpha thalassaemia not beta, wonder if that should be correct as general systems of thalassaemia or not? --BerserkerBen 19:10, 30 November 2005 (UTC)

Mild anemia is actually listed as a symptom of beta thalassemia minor already. --WS 19:42, 30 November 2005 (UTC)
yes but what about low iron? --BerserkerBen 22:22, 30 November 2005 (UTC)
Iron levels are usually normal. Low iron levels can suggest another cause such as iron deficiency or anemia resulting from chronic disorders. --WS 23:36, 30 November 2005 (UTC)
Some carriers are asymptomatic and some are symptomatic. There so many variants of the mutation as many as people and it usually becomes notices in combination with other disorders. It can co-exist with iron deficiency, B12 deficiency etc...It isn't specifically an iron deficiency disorder on its own but in combination with that you have more symptoms. --Marientina 07:17, 1 December 2005 (UTC)

--Jbrintrup. 9 april 2010.

Diagnosis of beta thalassaemia minor: in most cases mycrocitic, hypochromic anemia (MCV and MCH are lower than normal: in plain english, red blood cells are smaller and have less hemoglobin than they should.). Patients older than 6 months: HbA2 3,5-7,5% (normal value ~3%). HbF is not necessarily increased. Iron level is not critical for the disgnosis of beta thalassemia minor. This are the most common findings. There are MANY exceptions (and variations of such exceptions...). Final diagnosis of beta thalasemia: sequencing of HBB (Beta globin gene), then search for deletions in Human_β-globin_locus --Jbrintrup (talk) 13:03, 9 April 2010 (UTC)

Questions: My husband has the thalassemia trait, a year and a half ago he was diagnosed with B12 deficiency, is this because of him being a carrier?[edit]

Hi wonder if you could help me. My husband has the thalassemia trait, a year and a half ago he was diagnosed with B12 deficiency, is this because of him being a carrier? I know the B12 deficiency has effected his nerve system, could this effect his libido? Regards —Preceding unsigned comment added by Northern Cyprus (talkcontribs) 19:40, 1 May 2009 (UTC)

Under treatment, the text mentions thalassemia minor, but no where in the text is there an explanation of what the difference between minor and major is[edit]

Under treatment, the text mentions thalassemia minor, but no where in the text is there an explanation of what the difference between minor and major is. Could someone please explain the terms or remove them from the text.

I'm doing a report on thalassemia.[edit]

I'm doing a report on thalassemia. A concern I have about this site is: What exactly does thalassemia do to you? I understand that it makes red blood cells vunerable to damage, decreases their weight and volume, but what does this hemoglobin disorder actually do to a patient's life? Oh, and my assignment is due Dec. 20th. but do try to answer anyways. Thanks. -UnregisteredUser787281013

Thalassaemia leads to chronic anemia, which impairs growth and predisposes for other diseases.[edit]

Thalassaemia leads to chronic anemia, which impairs growth and predisposes for other diseases. In addition, both the disease and its treatment (blood transfusion) cause accumulation of iron in the body. This causes liver damage, hormone problems and osteoporosis.
The ideal treatment for severe cases is transplanting bone marrow that produces normal red blood cells. As this carries many risks, the risk has to be outweighed by the benefits for a peripheral blood stem cell transplant (PBSCT) to be worthwhile. Additional treatments include regular blood transfusions and iron chelation (i.e. accellerating the elimination of the excess iron in the body).

Thalassaemia was recently reviewed in the New England Journal of Medicine[edit]

Thalassaemia was recently reviewed in the New England Journal of Medicine[3], but that is rather technical. Drop a line on my talkpage if you need to have more information. JFW | T@lk 21:07, 11 December 2005 (UTC)

I was born with Thalassaemia Major[edit]


Both my parents have Thalassaemia Minor hence I was born with Thalassaemia Major, I take weekly blood transfusions and also use Desferal/Kelfer for Iron Chelation. I have a personal website with all articles related to this genetic disorder and also have a fourms for discussion. Visit to read my personal story Trials & Tribulations of a Thalassaemic Major

Regards Ashish Vazirani

that will be very useful for UnregisteredUser787281013[edit]

Hey Ashish, that will be very useful for UnregisteredUser787281013 rather than dry science articles. JFW | T@lk 23:59, 11 December 2005 (UTC)

Thanks for the information. I'll check Ashish's site soon.[edit]

Thanks for the information, Jdfwolff. I'll check Ashish's site soon. And I really am unregistered; I have a phobia of privacy intrusions. -UnregisteredUser787281013

Please refer to[edit]

Please refer to (talk) 22:44, 23 March 2015 (UTC)


I recently went to a doctor for a physical and he mentioned that my red blood cell count was low and suggested that because i consumed a lot or iron rich foods, that it may be Thalassaemia, which people usually mistake with low irons. He mentioned that the red blood cells with certain types of Thalassaemia is actually slightly smaller than a normal persons red blood cell because that blood cell is missing one or two protiens as mentioned in the article; and thus resulting in a smaller blood count. (anon 12/26/05)

I have 2 daughter's ages 6 and 1. Is it ok if i bring them to the doctors to do some test for thelassemia? Thank you. —Preceding unsigned comment added by Tanmichelle (talkcontribs) 01:47, 28 February 2008 (UTC)

Yes, it is prudent, prudent, prudent. However, test results will be better if they are a little older. Like 14 or 16 years of age per say. (talk) 22:45, 23 March 2015 (UTC)


poop oesn't mention Thalassemia Minima.[4]

  • How about redirects for the short forms, i.e., "alpha thal" and "beta thal"?

-- Robocoder (talk | contribs) 15:39, 4 September 2006 (UTC)

What is their lifespan?[edit]

I've been looking everywhere I can think of, including medical books and libraries and, like I said, everywhere, but nowhere does it say how long a person with Thalassemia lives. Could someone point me in the right direction? Thanks! Katami 01:48, 18 October 2006 (UTC)

It depends; people with Thalassemia minor usually can live normal lives, which I assume means "as long as anyone else". Apparently the life insurance industry thinks so too, because I have it (and disclosed it when I was doing the paperwork), and I'm considered better than a non-smoker in their eyes. Anyway, I've read that people with Thalassemia major, who need frequent blood transfusions, don't live as long (maybe into their 30s if they're lucky) because of complications with the blood transfusions, iron overload, etc. 22:35, 2 November 2006 (UTC)

All right, thanks! - Katami 00:07, 4 November 2006 (UTC)

[Habib, Z, Homozygous beta thalassaemia in Egypt, 1981][edit]

[Habib, Z, Homozygous beta thalassaemia in Egypt, 1981] refers to the possible life expectancy and mortality rate. It includes two human subjects.

Make use of Harvard Referencing and refer them here if you find something useful.

Please refer to (talk) 22:49, 23 March 2015 (UTC)

Thalassemias are not automatically hemoglobinopathies[edit]

Some have perfectly normal hemoglobins. By strict definition, hemoglobinopathy requires an abnormal hemoglobin, not abnormal amounts of a normal hemoglobin. [5] SBHarris 21:35, 8 December 2007 (UTC)

This is an old confusion. Some people associate "hemoglobinopathies" with "hemoglobin variants". Others use "hemoglobinopathy" as a common definition for all genetic diseases affecting hemoglobin, including thalassemias AND hemoglobin variants, which in my humble opinion is correct. (Greek pathos, -pathy "disease": Hemoglobinopathy Hemoglobin`s disease).
Also note that HbVar (A Database of Human Hemoglobin Variants and Thalassemias) do not use the term "hemoglobinopathy" at all. I think the curators in their wisdom foresaw the catastrophic consecuences of such missunderstanding.[6][7]
--Jbrintrup (talk) 13:59, 9 April 2010 (UTC)

Question: is Autosomal Recessive illustration correct?[edit]

Forgive my ignorance, but is the genetic illustration correct? It seems to give the impression that autosomal recessivity is sex-linked. The illustration for Sickle-cell would seem to be more appropriate: However, if I have completely misunderstood this, perhaps someone can clarify. (talk) 10:29, 13 January 2008 (UTC)Martin Turner (talk) 10:31, 13 January 2008 (UTC)

Yes, both the .jpg and .svg versions are correct. They display male and female children merely for illustrative purposes, but the inheritance pattern is displayed correctly. I actually don't like using the .svg version, though, because the colors in it may look differently when a color-blind person sees the image. --Rcej (talk) 07:54, 28 February 2008 (UTC)

Question: I have Thalassemia minor and also my son. My blood count ia 10; however, my son is 8.[edit]

Question: I have Thalassemia minor and also my son. My blood count ia 10; however, my son is 8. A doctor has suggested a blood transfusion for him; however, I have heard that Erythropoetin would be better. Help —Preceding unsigned comment added by (talk) 22:56, 4 February 2008 (UTC)

A doctor?? Get a second opinion. If they disagree, go to a local university center and get a third and forth. Medical opinions are relatively cheap compared with most medical tests. For the cost of one blood transfusion you can get two opinions by experts. SBHarris 03:20, 28 February 2008 (UTC)

Article of Low importance?[edit]

I think its strange for a disease that is the most common inherited disease in humans to be rated low importance. Anyone agree? (talk) 10:57, 6 May 2008 (UTC)

I totally agree with you, this article is an important subject for any encyclopedia, but in some parts of the world this disease is not that common so people there might think this is not important...Glasszone33 (talk) —Preceding undated comment added 14:44, 28 February 2009 (UTC).

Does Homeopathy works in Thalassemia?[edit]

Hi..My son is 1yr old and he is dignosed with Thalassemia major. I got to know of homeopathy treatment for the same works good if there had been no blood transfussion yet.Anyone has any experience on this one.His Hb count is 7.4 right now when would there be a requirement of blood transfussion? —Preceding unsigned comment added by (talk) 20:34, 9 October 2009 (UTC)

Homeopathy treatment for Thalassemia[edit]

A group of doctors in India claim to have treatment of Thalassemia by use of their continued homeopathy treatment. They also claim that if the blood transfussion in the patient has not been done yet the medicine can maintain the Hb count to a level that there would no requirement of blood transfussion and a person can live a normal life. There had been symptoms of jaundice, spleen enlargement in the patient so far and the test reported him to be a thalassemia major patient. We have started the treatment with Homeopathy and are waiting for the results if there is a stagnancy or improvement in the Hb count. —Preceding unsigned comment added by (talk) 20:40, 9 October 2009 (UTC)

gene ??[edit]

β globin chains are encoded by a single gene on chromosome 11; α globin chains are encoded by two closely linked genes on chromosome 16. Thus in a normal person with two copies of each chromosome, there are four loci encoding the β chain, and two loci encoding the α chain. —Preceding unsigned comment added by (talk) 14:23, 30 November 2009 (UTC)

We appreciate if you can find some academic white papers or research paper from some source, to add to this article. (talk) 22:42, 23 March 2015 (UTC)

From thalassemia minor to major, is it possible?[edit]

is there any chances or possibilities that the minor thalassemia is going to evolve to major one?

for example, if the minor thalassemia is not treated in earlier time, is it going to up in the different level of thalassemia?

I hope someone answer my concern.. thanks!

No it is not possible[edit]

No it is not possible ...if parents are of minor thalessimia then they can produce a major once....if parents hv 4 children then 1 will be of major thalessimia —Preceding unsigned comment added by (talk) 19:54, 9 May 2011 (UTC)

Major definition error[edit]

I think it should be discussed here first before making any change in the main article. There are big errors in the definition of the disease. While talassemia is in most cases an "inherited autosomal recessive blood disease" this statement is not true in all cases. There are rare cases of acquired thalassemia. Some mutations in the beta globin gene (most of them in exon 3) show an autosomal dominant inheritance pattern. Other major error is to state that "the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin." Again, while this is true in most cases, there are also a considerable amount of thalassemias where the "synthesis" is not altered, or it is even increased, but due to hemolysis (destruction of hemoglobin and/or red blood cells) the final amount of hemoglobin in blood is reduced. I propose a more general definition that is valid for all cases of thalassemia, something like this: Thalassemias are a group of diseases (there are many types: alpha thalassemia, beta thalassemia, etc.) of the red blood cells caused by mutations (inherited or not) resulting in a decreased concentration of hemoglobin in blood (either by decreased production or hemolysis (hemoglobin "destruction"))--Jbrintrup (talk) 11:30, 9 April 2010 (UTC)

Thalassaemia (trait) minor, is poorly understood in the UK[edit]

I was diagnosed in 1975 (aged 16) with Thalassaeamia minor. inherited from my father, a Cypriot. It was picked up on a blood test for thyrotoxicosis (-ve).I was given folic acid. It then was never mentioned again, until I developed diabetes, nearly 30 years later. Over the past 8 years, GP's all seem/look confused, as I explain the do's & the dont's. My father lived till he was 94 & an extreme athlete. I have always treated my anaemia. British GP's seem ignorant to this genetic trait, and it's manifestations.

19:50, 20 August 2011 (UTC)ProfMad19:50, 20 August 2011 (UTC) — Preceding unsigned comment added by Profmad (talkcontribs) 19:50, 20 August 2011 (UTC)ProfMad19:50, 20 August 2011 (UTC)

In one week...[edit]

Might be useful. JFW | T@lk 23:20, 28 January 2012 (UTC)

Yes indeed, I'll read them. Thanks, Graham. Graham Colm (talk) 23:30, 28 January 2012 (UTC)


The symptoms are missing in the article. — Preceding unsigned comment added by 2001:0:53AA:64C:14F1:35D4:A12A:938C (talk) 15:53, 15 June 2012 (UTC)

Study Finds Thal Minors do Have Symptoms[edit] Premawardhena A, Arambepola M, Katugaha N, Weatherall DJ. Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka. 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.;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:

 ::   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. (talk) 22:35, 23 March 2015 (UTC)

My daughter has apha thalassemia[edit]

My daughter has alpha thalassemia and I'm trying to get a better understanding of this. The doctor have advise that she cannot marry anyone who has the same trait. what will effect will it cause when thry have a child together? [Author unknown] (talk) 11:36, 27 July 2012 (UTC)

Please clarify if it is a major or intermedia or a minor. If she is a major, she needs regular blood transfusions.

Article has been updated and changed since you've last posted. (talk) 22:38, 23 March 2015 (UTC)

Please go to Red.svg{{{2}}} arrow Wikipedia:Reference desk/Science#my daughter has apha thalassemia Penyulap 12:31, 29 Jul 2012 (UTC)

Please go to and to your closest haemotologist.

There have been research papers out there, like from Habib and Zaino. I will have make referals here. (talk) 22:27, 23 March 2015 (UTC)

Epidemiology section appears to have been written twice[edit]

There are two paragraphs under the Epidemiology heading. They have about 60% overlap, but two different values for the prevalence of thalassaemia in the Maldives (16% and 18%) though neither is referenced. — Preceding unsigned comment added by (talk) 09:07, 16 March 2013 (UTC)

Mediterranean link to etymology?[edit]

An editor made an uncited claim that the reason for the Greek etymology of the condition name is the prevalence of the condition among people of Mediterranean descent. How can this be true when there are so many other conditions with names stemming from Greek or Latin language (e.g. anaemia?) which are not associated with the Mediterranean area? ```` — Preceding unsigned comment added by (talk) 05:21, 26 March 2013 (UTC)

Habib and Zaino mentioned the gene being originated roughly that area, by 50,000 to 10,000 years ago. (talk) 22:53, 23 March 2015 (UTC)

Thalassemia map[edit] (talk) 22:53, 23 March 2015 (UTC)

WP:Engvar in title[edit]

I think this is consistent with how this is handled generally: color, behavior, hematology, etc. Yes, I know about WP:Other stuff exists, but this does seem to be the norm. -- Scray (talk) 04:35, 21 July 2013 (UTC)

Yes no strong thoughs either way. Happy to leave it in if that is the norm. Doc James (talk · contribs · email) (if I write on your page reply on mine) 04:37, 21 July 2013 (UTC)
Now I see that it's covered in MOS:LEADALT - so it's policy to include alternate spellings. I learned something new. -- Scray (talk) 04:38, 21 July 2013 (UTC)
And so do I, thanks. Doc James (talk · contribs · email) (if I write on your page reply on mine) 04:46, 21 July 2013 (UTC)

Pulmonary hypertension[edit]

... more common in thal intermedia than thal major. doi:10.1161/​CIRCULATIONAHA.113.002124 JFW | T@lk 17:00, 21 January 2014 (UTC)

Thalassaemia: The Biography, by David Weatherall[edit]

Thalassaemia is the most common type of genetic disorder in the human population, and one of the first whose genetic basis was established. Written by Sir David Weatherall, an expert in molecular medicine and the founder of the Institute of Molecular Medicine in Oxford, this tells the story of early reports of the disease, historical accounts, the identification of the disease as having an inherited basis, early work on thalassaemia as a disorder of the synthesis of haemoglobin, and from the 1960s with the rise of molecular biology, the study of the condition at the DNA level. (talk) 22:30, 23 March 2015 (UTC)

Homozygous β thalassaemia in Egypt[edit]

Homozygous β thalassaemia in Egypt by ZACHARIAS HABIB [1981]

HABIB, Z. 1981. Homozygous β thalassaemia in Egypt. —Hereditas 95: 323-330. Lund, Sweden. ISSN 0018-0661. Received August 13, 1981

A proposita with severe homozygous β thalassaemia and a propositus with a milder condition, both born in Egypt of Egyptian parents, are reported. The presence of thalassaemia intermedia in the propositus is a possibility. At least one of 6,038 newborns in Egypt is homozygous for β thalassaemia.

A severe anaemia appearing in children as early as the eighth month of age associated with enlargement of the spleen and liver, mongoloid facies and skeletal changes, was first identified and described by Cooley and Lee (1925). The term “Thalassaemia” originated from the Greek ΘΑΛΑΣΣΑ (THALASSA) which means, the sea. “Thalassaemia” was coined to that anaemic disease by Whipple and Bradford (1936) since, at that time, it was thought to occur mainly in Mediterranean races. Later, Caminopetros (1938) proposed that the disease is genetically determined.

Thalassaemia has its greatest incidence in a broad zone extending from the Mediterranean basin (especially Cyprus, Greece and Italy) through the Middle East and Far East (Weatherall and Clegg 1981). However, the incidence varies. For instance, in Cyprus one out of 166 newborn infants is expected to be homozygous for β thalassaemia (ASHIOTIS et al. 1973), in Greece one of 625 (MALA-MOS et al. 1962; Ministry of Social Affairs 1976) and in Sardinia, Italy one of 250 (CAO et al. 1978).

The thalassaemia gene might have originated more than 50,000 years ago during the Paleolithic period, in an area now representing the southern part of Italy and Greece, as evidenced by skeletal remnants exhibiting bony changes similar to those of thalassaemia. Furthermore, two infant skulls dating to the 12th dynasty of the middle kingdom in ancient Egypt (about 2000 B.C.) showed thalas-saemic-like osteoporosis (Zaino 1964). Migration and subsequent gene flow could have resulted in the present cline of thalassaemia.

In β thalassaemia, there is a partial or total reduction in the output of β chains resulting in a marked globin chain imbalance and, consequently, an excess in alpha chain ensues. The gamma chain synthesis continues and forms haemoglobin (Hb) F (ααγγ). However, the total production of Hb F cannot compensate for the deficient Hb A (ααββ). There are not enough gamma chains to bind the excess alpha chains. Alpha chains precipitate in the red-cell precursors and cause mechanical damage to the red cells during maturation and in the peripheral blood as well, during its passage through the reticulo-endothelial system. A severe anaemia follows which is mainly dyserythropoietic and partly haemolytic. The clinical signs and symptoms in a homozygous β thalas-saemic are caused by the secondary effects resulting from the progressive anaemia (Weatherall and Clegg 1981).

From Egypt, Diwani (1944) reported the first three cases of, presumably, Cooley’s anaemia—two of them were of pure Egyptian stock, a 10-year-old boy and a 6-year-old girl. Both children had marked anaemia, mongoloid facies, enlarged spleen and liver, enlargement of the heart and marked osteoporosis. With to-day’s definition they were probably homozygous β thalassaemic patients. Later, Shukry and Awwaad (1954) presented two Egyptian families. The first had a 2-year-old son and a 5-year-old daughter, both showed all the severe manifestations of Cooley’s anaemia. The parents had mild anisocytosis and poikilocytosis. The second family had an 18-month-old son with severe Cooley’s anaemia which, in fact, was manifest already at the age of 10 months. The parents had moderate degrees of anaemia.

Two Egyptian families, each with a homozygous β thalassaemic child are reported in this paper. (talk) 23:52, 26 March 2015 (UTC)

Thalassaemia in Cyprus, H. ASHIOTIS, Z. ZACHARIADIS, K. SOFRONIADOU[edit]



Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian population.


Population genetic studies in areas where thalassaemias are common in addition to their theoretical interest are of much practical importance. In planning management facilities a consideration of the types and frequencies of the various thalassaemia genes in the population is necessary because the public health problems created by the various forms of thalassaemia differ. Information about the frequency of thalassaemia types in a population is also instrumental to the design of preventive programmes. While prevention of homozygous betathalassaemia through population screening and counselling of the subjects at risk is theoretically possible, a similar approach for alpha-thalassaemia is not justified because of the intrauterine death of the alpha-thalassaemia homozygotes and the inability to identify the matings at risk for offspring with Hb H disease.

The purpose of this study was to appraise the problem of thalassaemia in Cyprus, where preliminary evidence had indicated that both forms of thalassemia, alpha and beta, were common. Cyprus is the third largest island in the Mediterranean, having 633,000 inhabitants; 77.0% of Greek origin, 18.3% Turkish, and 4.7% of various other national backgrounds.' There have been two studies on thalassaemia in Cyprus. One was conducted before biochemical tests for thalassaemia were available, and it indicated that the frequency of thalassaemia trait among Greek Cypriots was 28%. Plato et al.,3 using a combination of haematological and biochemical tests, found that the frequency of beta-thalassaemia in Greek Cypriots was 6%. In this study we estimated the frequencies of thalassaemia in Cyprus by surveying hospital inpatients and unselected adult and newborn population samples. The data indicated that among Caucasian populations Cyprus is characterized by the highest frequencies of the alpha and beta-thalassaemia genes. (talk) 16:55, 25 March 2015 (UTC)

I am fortunate to say that I lived in Montreal and now live in Toronto. Both of them are great cities.[edit]

In Canada, I am fortunate to say that I lived in Montreal and now live in Toronto. Both of them are great cities.

Growing up most of my adult life I witnessed many friends who lost their lives with Beta Thalassemia Major, mostly in Montreal and yes in Toronto as well. It is hard growing up knowing we are not able to enjoy life together as we see each other at the hospital clinic for blood transfusions.

Thalassemia has come a long way. And that there is still some room for improvement as for medicine and care. And in both cities there are grrreat health care staff.

Our parents use to be told that we were not going to live long to see our childhood, teenage years and adult hood as time went by and that I was fortunate to get married, now divorced. I am not here to boast or brag.

All because of desferal.... life has changed for many people's lives including myself. For those who passed away. It was either because of non compliancy with their medication or it was too late as the iron stored up in their heart mostly and liver too.

For me personally, the drug/medicine called desferal/desferoxamine (to be used as an iron remove the iron we receive with multiple blood transfusions was and is my life saviour. It all started on a pilot project in Bethesda, Maryland at National Institute of Health in the early 1970's. Others now use a pill form or powder mix in water or juice. But the desferal that I use is either used subcutaneous through the tissues of your stomach, arms or legs with a thumb tack needle or a small butterfly needle and it is pushed through a small automated machine you attach the 10cc syringe. Personally I use my stomach. I use to pick my own veins at home and do it intrevenously or now these days I use whats called a Picc Line, while others use a Catheter. It is prepared myself or by the hospital pharmacy. These are new ways get rid of the iron accumlated over the many years of blood transfusions. As iron build up is the main reasons of patients passing away.

If you are a carrier of this Thalassemia gene and you plan to get married. Go get screened and do a blood test. Because every time the woman gets pregnant and if both parents are carriers, there is a 1 in 4 chance that they are at risk of raising a child with a hospital life long of blood transfusions and a whole lot more of visiting hospitals for other testing as the child grows up to adult hood.

I personally will go tomorrow for my lifetime 688th blood transfusion. :) Life is one incredible journey. :) George K. 53 yrs. old

Assessment comment[edit]

The comment(s) below were originally left at Talk:Thalassemia/Comments, and are posted here for posterity. Following several discussions in past years, these subpages are now deprecated. The comments may be irrelevant or outdated; if so, please feel free to remove this section.

my duaghter has apha thalassemia and I'm trying to get a better understanding of this. The doctor have advise that she cannot marrie anyone who has the same trait. what will effect will it cause when thry have a child together?

Last edited at 17:25, 15 March 2008 (UTC). Substituted at 07:53, 30 April 2016 (UTC)

Review of bone disease[edit]

doi:10.1210/er.2015-1105 JFW | T@lk 13:12, 20 June 2016 (UTC)