Thalassemia (British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. MedlinePlus, with the MedlinePlus Medical Encyclopedia, is a website network containing Health information from the world's largest medical Library eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely two medical doctors Hematology ( American English) or haematology ( British English) is the branch of biology (physiology Pathology, Clinical laboratory In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Hemoglobin ( also spelled haemoglobin and abbreviated Hb or Hgb) is the Iron -containing Oxygen -transport Metalloprotein Reduced synthesis of one of the globin chains can cause the formation of abnormal haemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell disease (a haemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Sickle-cell disease or sickle-cell anaemia (or anemia) is a Blood disorder characterized by Red blood cells that assume an abnormal rigid Hemoglobinopathy is a kind of Genetic defect that results in abnormal structure of one of the Globin chains of the Hemoglobin molecule Thalassemias usually result in under production of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves ^[1]. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa (θάλασσα) is Greek for the sea, Haema (αίμα) is Greek for blood. In Greek mythology, Thalassa (Θάλασσα " Sea " was a primordial sea Goddess, daughter of Aether and Hemera. The highest concentrations of the disease are found in Greece, including the Greek islands; in parts of Italy, in particular, the lower Po valley; in southern Italy; and in the Italian islands. Sicily, Sardinia (Italian islands), Corsica (French island) and Cyprus and Crete (Greek islands) are heavily affected in particular; the higher incidence in these islands likely is because of the higher inbreeding that occurs in isolated populations.

Prevalence

Generally, thalassemias are prevalent in populations that evolved in humid climates where malaria was endemic, but affects all races. Thalassemias are particularly associated with Arabs, people of Mediterranean origin, and Asians. ^[2] The estimated prevalence is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from Bangladesh, China, India, Malaysia and Pakistan. Cyprus (Κύπρος transliterated: Kýpros,; Kıbrıs officially the Republic of Cyprus (Κυπριακή Δημοκρατία Kypriakī́ Dīmokratía The Kingdom of Thailand (ˈtaɪlænd ราชอาณาจักรไทย, râːtɕʰa-ʔaːnaːtɕɑ̀k-tʰɑj ( Bengali: বাংলাদেশ inc-Latn Bangladesh) officially China ( Wade-Giles ( Mandarin) Chung¹kuo² is a cultural region, an ancient Civilization, and depending on perspective a National India, officially the Republic of India (भारत गणराज्य inc-Latn Bhārat Gaṇarājya; see also other Indian languages) is a country For the biogeographical region see Malesia Malaysia (məˈleɪʒə or /məˈleɪziə/ is a country that consists of thirteen states and Pakistan () officially the Islamic Republic of Pakistan, is a country located in South Asia, Southwest Asia, Middle East and There are also prevalences in descendants of people from Latin America, and Mediterranean countries (e. g. Greece, Italy, Portugal, Spain, and others). Greece (Ελλάδα transliterated: Elláda, historically, Ellás,) officially the Hellenic Republic (Ελληνική Δημοκρατία Italy (Italia officially the Italian Republic, (Repubblica Italiana is located on the Italian Peninsula in Southern Europe, and on the two largest Portugal, officially the Portuguese Republic (República Portuguesa is a country on the Iberian Peninsula. Spain () or the Kingdom of Spain (Reino de España is a country located mostly in southwestern Europe on the Iberian Peninsula. A very low prevalence has been reported from people in northern Europe (0. 1%) and Africa (0. 9%), with those in northern Africa having the highest prevalence. (4)Ancient Egyptians suffered from Thalassemia and it was particularly common in populations of indigenous ethnic minorities such as the Beja, Hadendoa, Saiddi and Siwans.

Pathophysiology

The thalassemias are classified according to which chain of the hemoglobin molecule is affected (see hemoglobin for a description of the chains). Hemoglobin ( also spelled haemoglobin and abbreviated Hb or Hgb) is the Iron -containing Oxygen -transport Metalloprotein In α thalassemias, production of the α globin chain is affected, while in β thalassemia production of the β globin chain is affected.

Thalassemia produces a deficiency of α or β globin, unlike sickle-cell disease which produces a specific mutant form of β globin. Sickle-cell disease or sickle-cell anaemia (or anemia) is a Blood disorder characterized by Red blood cells that assume an abnormal rigid

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 two loci encoding the β chain, and four loci encoding the α chain. ^[3]

Deletion of one of the α loci has a high prevalence in people of African-American or Asian descent, making them more likely to develop α thalassemias. β thalassemias are common in African-Americans, but also in Greeks and Italians.

Alpha (α) thalassemias

The α thalassemias involve the genes HBA1 (Online 'Mendelian Inheritance in Man' (OMIM) 141800) and HBA2 (Online 'Mendelian Inheritance in Man' (OMIM) 141850), inherited in a Mendelian recessive fashion. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them It is also connected to the deletion of the 16p chromosome. α thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. The excess β chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta chains) which have abnormal oxygen dissociation curves.

There are four genetic loci for α globin, two of which are maternal in origin and two of which are paternal in origin. The severity of the α thalassemias is correlated with the number of affected α globin loci: the greater the number of affected loci, the more severe will be the manifestations of the disease.

• If one of the four α loci is affected, there is minimal effect. Three α-globin loci are enough to permit normal hemoglobin production, and there are no clinical symptoms. They have been called silent carriers. They may have a slightly reduced mean corpuscular volume and mean corpuscular hemoglobin. The mean corpuscular volume, or MCV, is a measure of the average Red blood cell volume (i The mean corpuscular hemoglobin, or "mean cell hemoglobin" ( MCH) is the average mass of Hemoglobin per Red blood cell in a sample of blood
• If two of the four α loci are affected, the condition is called alpha thalassemia trait. Two α loci permit nearly normal erythropoiesis, but there is a mild microcytic hypochromic anemia. Erythropoiesis is the process by which Red blood cells (erythrocytes are produced Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative The mean corpuscular hemoglobin concentration, or MCHC, is a measure of the concentration of Hemoglobin in a given volume of packed Red blood cell. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative The disease in this form can be mistaken for iron deficiency anemia and treated inappropriately with iron. For a discussion of iron deficiency more broadly see the Wikipedia article iron deficiency. Alpha thalassemia trait can exist in two forms: one form, associated with Asians, involves cis deletion of two alpha loci on the same chromosome; the other, associated with Blacks, involves trans deletion of alpha loci on different (homologous) chromosomes.
• If three loci are affected, the condition is called Hemoglobin H disease. Two unstable hemoglobins are present in the blood: Hemoglobin Barts (tetrameric γ chains) and Hemoglobin H (tetrameric β chains). Both of these unstable hemoglobins have a higher affinity for oxygen than normal hemoglobin, resulting in poor oxygen delivery to tissues. There is a microcytic hypochromic anemia with target cells and Heinz bodies (precipitated HbH) on the peripheral blood smear, as well as splenomegaly. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative The mean corpuscular hemoglobin concentration, or MCHC, is a measure of the concentration of Hemoglobin in a given volume of packed Red blood cell. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative Codocytes, also known as target cells, are red blood cells that have the appearance of a target with a Bullseye. Heinz bodies (also referred to as "Heinz-Ehrlich bodies" are inclusions within Red blood cells composed of denatured Hemoglobin. A Blood Film or Peripheral Blood Smear is a slide made from a drop of Blood, that allows the cells to be examined microscopically Splenomegaly is an enlargement of the Spleen, which usually lies in the left upper quadrant (LUQ of the Human abdomen. The disease may first be noticed in childhood or in early adult life, when the anemia and splenomegaly are noted.
• If all four loci are affected, the fetus cannot live once outside the uterus and may not survive gestation: most such infants are dead at birth with hydrops fetalis, and those who are born alive die shortly after birth. A fetus (or foetus or fœtus) is a developing Mammal or other Viviparous Vertebrate, after the Embryonic stage and Hydrops fetalis is a condition in the Fetus characterized by an accumulation of fluid or Edema, in at least two fetal compartments including the subcutaneous tissue They are edematous and have little circulating hemoglobin, and the hemoglobin that is present is all tetrameric γ chains (hemoglobin Barts). Oedema (or Edema in American English formerly known as dropsy or hydropsy, is the increase of Interstitial fluid in any organ &mdash swelling ^[4]

Beta (β) thalassemias

Beta thalassemias are due to mutations in the HBB gene on chromosome 11 (Online 'Mendelian Inheritance in Man' (OMIM) 141900), also inherited in an autosomal-recessive fashion. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The severity of the disease depends on the nature of the mutation. Mutations are characterized as (β^o) if they prevent any formation of β chains; they are characterized as (β⁺) if they allow some β chain formation to occur. In either case there is a relative excess of α chains, but these do not form tetramers: rather, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations they form toxic aggregates. Red blood cells are the most common type of Blood cell and the Vertebrate body's principal means of delivering Oxygen to the body tissues via the Blood

Any given individual has two β globin alleles.

• If only one β globin allele bears a mutation, the disease is called β thalassemia minor (or sometimes called β thalassemia trait). This is a mild microcytic anemia. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative In most cases β thalassemia minor is asymptomatic, and many affected people are unaware of the disorder. Detection usually involves measuring the mean corpuscular volume (size of red blood cells) and noticing a slightly decreased mean volume than normal. The mean corpuscular volume, or MCV, is a measure of the average Red blood cell volume (i The patient will have an increased fraction of Hemoglobin A2 (>2. 5%) and a decreased fraction of Hemoglobin A (<97. 5%).
• If both alleles have thalassemia mutations, the disease is called β thalassemia major or Cooley's anemia. This is a severe microcytic, hypochromic anemia. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative Untreated, this progresses to death before age twenty. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Blood transfusion is the process of transferring Blood or blood-based products from one person into the Circulatory system of another Cure is possible by bone marrow transplantation.
• Thalassemia intermedia is a condition intermediate between the major and minor forms. Affected individuals can often manage a normal life but may need occasional transfusions e. g. at times of illness or pregnancy, depending on the severity of their anemia.

The genetic mutations present in β thalassemias are very diverse, and a number of different mutations can cause reduced or absent β globin synthesis. Two major groups of mutations can be distinguished:

• Nondeletion forms: These defects generally involve a single base substitution or small deletion or inserts near or upstream of the β globin gene. Most commonly, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are believed to contribute to the disease.
• Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (β^o) or hereditary persistence of fetal hemoglobin syndromes.

Delta (δ) thalassemia

As well as alpha and beta chains being present in hemoglobin about 3% of adult hemoglobin is made of alpha and delta chains. Just as with beta thalassemia, mutations can occur which affect the ability of this gene to produce delta chains. A mutation that prevents formation of any delta chains is termed a delta⁰ mutation, whereas one that decreases but does not eliminate production of delta chain is termed a delta⁺ mutation. When one inherits two delta⁰ mutations, no hemoglobin A2 (alpha2,delta2) can be formed. Hematologically, however, this is innocuous because only 2-3% of normal adult hemoglobin is hemoglobin A2. The individual will have normal hematological parameters (erythrocyte count, total hemoglobin, mean corpuscular volume, red cell distribution width). The mean corpuscular volume, or MCV, is a measure of the average Red blood cell volume (i Individuals who inherit only one delta thalassemia mutation gene will have a decreased hemoglobin A2, but also no hematological consequences. The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of beta thalassemia trait. In beta thalassemia, there is an increase in hemoglobin A2, typically in the range of 4-6% (normal is 2-3%). However, the co-existence of a delta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscurring the diagnosis of beta thalassemia trait. This can be important in genetic counseling, because a child who is the product of parents each of whom has beta⁰ thalassemia trait has a one in four chance of having beta thalassemia major.

In combination with other hemoglobinopathies

Thalassemia can co-exist with other hemoglobinopathies. The most common of these are:

• hemoglobin E/thalassemia: common in Cambodia, Thailand, and parts of India; clinically similar to β thalassemia major or thalassemia intermedia. The Kingdom of Cambodia ( formerly known as Kampuchea (, transliterated: Preăh Réachéanachâkr Kâmpŭchea) is a country in South East The Kingdom of Thailand (ˈtaɪlænd ราชอาณาจักรไทย, râːtɕʰa-ʔaːnaːtɕɑ̀k-tʰɑj India, officially the Republic of India (भारत गणराज्य inc-Latn Bhārat Gaṇarājya; see also other Indian languages) is a country
• hemoglobin S/thalassemia, common in African and Mediterranean populations; clinically similar to sickle cell anemia, with the additional feature of splenomegaly
• hemoglobin C/thalassemia: common in Mediterranean and African populations, hemoglobin C/β^o thalassemia causes a moderately severe hemolytic anemia with splenomegaly; hemoglobin C/β⁺ thalassemia produces a milder disease. Splenomegaly is an enlargement of the Spleen, which usually lies in the left upper quadrant (LUQ of the Human abdomen.

Treatment and complications

Anyone with thalassemia should consult a properly qualified hematologist. Hematology ( American English) or haematology ( British English) is the branch of biology (physiology Pathology, Clinical laboratory

Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor). Folic acid (also known as Vitamin M and Folacin) and Folate (the Anionic form are forms of the water-soluble Vitamin B9

Thalassemia Major and Intermedia

Thalassemia Major patients receive frequent blood transfusions that lead to iron overload. Blood transfusion is the process of transferring Blood or blood-based products from one person into the Circulatory system of another In Medicine, iron overload disorders are Diseases caused by the accumulation of Iron in the body Iron chelation treatment is necessary to prevent iron overload damage to the internal organs in patients with Thalassemia Major. Chelation therapy is the administration of chelating agents to remove Heavy metals from the body Because of recent advances in iron chelation treatments, patients with Thalassemia Major can live long lives if they have access to proper treatment. Popular chelators include deferoxamine and deferiprone. Deferoxamine (also known as desferrioxamine, desferoxamine, DFO, DFOA or desferal) is a Chelating agent used to remove Deferiprone (tradenames include Ferriprox) is an Oral Drug that Chelates Iron and is used to treat Thalassaemia major. Of the two, deferoxamine is preferred; it is more effective and is associated with fewer side-effects. In Medicine, an adverse effect is a harmful and undesired effect resulting from a medication or other intervention such as Chemotherapy or Surgery. ^[5]

The most common complaint by patients receiiving deferoxamine is that it is difficult to comply with the intravenous chelation treatments because they are painful and inconvenient. The oral chelator deferasirox (marketed as Exjade by Novartis) was approved for use in 2005 in some countries. Deferasirox (marketed as Exjade) is a rationally-designed oral Iron chelator. It offers some hope with compliance but is very expensive (~US$100 per day) and has been associated with deaths from toxicity.

Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important. Heart failure is a Cardiac condition that occurs when a problem with the structure or function of the Heart impairs its ability to supply

In recent years, bone marrow transplant has shown promise with some patients of thalassemia major. Successful transplant can eliminate the patients dependencies in transfusions.

All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. The spleen is an organ found in all Vertebrate animals In humans the spleen is located in the abdomen of the body where it functions in the destruction of redundant Red These complications are mostly prevalent to thalassemia Major and Intermedia patients.

Thalassemia Intermedia patients vary a lot in their treatment needs depending on the severity of their anemia.

Thalassemia Minor

Contrary to popular belief, Thalassemia Minor patients should not avoid iron-rich foods by default. A serum ferritin test can determine what their iron levels are and guide them to further treatment if necessary. Ferritin is a Globular protein complex consisting of 24 protein subunits and is the main intracellular iron storage protein in both Prokaryotes Thalassemia Minor, although not life threatening on its own, can affect quality of life due to the effects of a mild to moderate anemia. Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative Studies have shown that Thalassemia Minor often coexists with other diseases such as asthma^[6], and mood disorders^[7]. Asthma is a chronic Condition involving the Respiratory system in which the airways occasionally constrict become inflamed, and are A mood disorder is the term given for a group of diagnoses in the DSM IV TR classification system where a disturbance in the person's emotional mood is hypothesised

Genetic prevalence

Thalassemia has an autosomal recessive pattern of inheritance

α and β thalassemia are often inherited in an autosomal recessive fashion although this is not always the case. An autosome is a non-sex Chromosome. It is an ordinarily paired type of chromosome that is the same in both Sexes of a species. Cases of dominantly inherited α and β thalassemias have been reported, the first of which was in an Irish family who had a two deletions of 4 and 11 bp in exon 3 interrupted by an insertion of 5 bp in the β-globin gene. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. An autosome is a non-sex Chromosome. It is an ordinarily paired type of chromosome that is the same in both Sexes of a species. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families that carry a thalassemia trait. Genetic counseling is the process by which patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder the probability of developing Genetic testing allows the genetic Diagnosis of vulnerabilities to inherited Diseases, and can also be used to determine a person's Ancestry.

There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone. This is a very rough estimate and the actual number of thalassemia Major patients is unknown due to the prevalence of thalassemia in less developed countries in the Middle East and Asia. Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world's blood bank supplies and the health system in general. There are an estimated 1,000 people living with Thalassemia Major in the United States and an unknown number of carriers. Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult.

As with other genetically acquired disorders, genetic counseling is recommended.

Treatment and management

The antioxidant indicaxanthin, found in beets, in a spectrophotometric study showed that indicaxanthin can reduce perferryl-Hb generated in solution from met-Hb and hydrogen peroxide, more effectively than either Trolox or Vitamin C. The beet or beetroot is a Flowering plant species ( Beta vulgaris) in the family Chenopodiaceae. In Physics, spectrophotometry is the quantitative study of electromagnetic spectra. Vitamin C or L-ascorbate is an Essential nutrient for a large number of higher primate species a small number of other Mammalian Collectively our results demonstrate that indicaxanthin can be incorporated into the redox machinery of β-thalassemic RBC and defend the cell from oxidation, possibly interfering with perferryl-Hb, a reactive intermediate in the hydroperoxide-dependent Hb degradation. ^[8]

A screening policy exists on both sides of the island of Cyprus to reduce the incidence of thalassemia, which since the program's implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero. Cyprus (Κύπρος transliterated: Kýpros,; Kıbrıs officially the Republic of Cyprus (Κυπριακή Δημοκρατία Kypriakī́ Dīmokratía ^[9]

Benefits

Being a carrier of the disease may confer a degree of protection against malaria, and is quite common among people from Italian or Greek origin, and also in some African and Indian regions. Malaria is a vector -borne Infectious disease caused by Protozoan Parasites It is widespread in tropical and subtropical regions including Italy (Italia officially the Italian Republic, (Repubblica Italiana is located on the Italian Peninsula in Southern Europe, and on the two largest Greece (Ελλάδα transliterated: Elláda, historically, Ellás,) officially the Hellenic Republic (Ελληνική Δημοκρατία This is probably by making the red blood cells more susceptible to the less lethal species Plasmodium vivax, simultaneously making the host RBC environment unsuitable for the merozoites of the lethal strain Plasmodium falciparum. Plasmodium vivax is a Protozoal Parasite and a human Pathogen. A merozoite (G meros, part a series + zoon, animal is a Daughter cell of a Protozoan Parasite. Plasmodium falciparum is a Protozoan Parasite, one of the species of Plasmodium that cause Malaria in humans This is believed to be a selective survival advantage for patients with the various thalassemia traits. In that respect it resembles another genetic disorder, sickle-cell disease. A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired Sickle-cell disease or sickle-cell anaemia (or anemia) is a Blood disorder characterized by Red blood cells that assume an abnormal rigid

Epidemiological evidence from Kenya suggests another reason: protection against severe anemia may be the advantage. The Republic of Kenya is a country in East Africa. It is bordered by Ethiopia to the north Somalia to the northeast Tanzania to the south Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative ^[10].

People diagnosed with heterozygous (carrier) Beta-Thalassemia have some protection against coronary heart disease. Zygosity refers to the genetic condition of a Zygote. In genetics zygosity describes the similarity or dissimilarity of DNA between Homologous Coronary disease (or coronary heart disease) refers to the failure of Coronary circulation to supply adequate circulation to Cardiac muscle and surrounding ^[11]

Additional facts

Recently, increasing reports suggest that up to 5% of patients with beta-thalassemias produce fetal hemoglobin (HbF), and use of hydroxyurea also has a tendency to increase the production of HbF, by as yet unexplained mechanisms.

References

External links

• The Thalassaemia International Federation
• Blood.info - Prevention, Cure and Research for Thalassemia
• Errant Gene Therapeutics - Caring for Orphan Diseases: Thalagen - Gene therapy treatment for beta Thalassemia
• Online 'Mendelian Inheritance in Man' (OMIM) 141900 (beta-thalassemia), Online 'Mendelian Inheritance in Man' (OMIM) 141800 (alpha-thalassemia)
• Cooley's Anemia Foundation Leading the fight against thalassemia
• Northern Comprehensive Thalassemia Center: Provides information about the disease and related matters. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them
• Thalassemia Free Pakistan, A private charity foundation providing research material, and support for thalassemic patients and their families
• Thalassemia Overview (Latest Research)
• Thalassemia Patients and Friends: Message board for those affected.
• Thalforum.com - Thalassemia Community Forum: Thalassemia Discussion Forum for Thalassemia Patients, Families and Care-givers.
• Thalassemia Foundation of Canada:
• Hemoglobal A fully registered Canadian charity providing medical aid to Sri Lankan children with thalassemia.
• Thalassemia Support Foundation Helping Patients Find Hope
• Micrel Medical Devices Sells Iron-Chelation equipment for Thalassemia patients
• Thalassemia in India Thalassemia in India
• National Thalassemia Welfare Society, India