Transfusion-dependent patients develop iron overload and require chelation therapy[46] to remove the excess iron. These tests include complete blood count; hemoglobin electrophoresis; serum transferrin, ferritin, total iron-binding capacity; urine urobilin and urobilogen; peripheral blood smear, which may show codocytes, or target cells;[26] hematocrit; and serum bilirubin. [citation needed] [27][28] The expected pattern on hemoglobin electrophoresis in people with beta-thalassemia is an increased level of hemoglobin A2 and slightly increased hemoglobin F.[citation needed]. If either the alpha or beta part is not made, there aren’t enough building blocks to make … Alpha thalassemia intermedia, or hemoglobin H disease, … Surgeons who chose Laparoscopic splenectomy must administer an appropriate immunization at least two weeks before the surgery. Absent a matching donor, a savior sibling can be conceived by preimplantation genetic diagnosis (PGD) to be free of the disease as well as to match the recipient's human leukocyte antigen (HLA) type. Severe symptoms include liver cirrhosis, liver fibrosis, and in extreme cases, liver cancer. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. People who are carriers of thalassaemia are also at risk of having a child with a blood disorder if their partner is a carrier of a different type of blood disorder. [41], Long-term transfusion therapy to maintain the patient's hemoglobin level above 9-10 g/dL (normal levels are 13.8 for males, and 12.1 for females). This is because your red blood cells are smaller than usual. PGD is similar to IVF, but the resulting embryos are tested to check they do not have thalassaemia before they're implanted in the womb. The mean patient age is 23 with only 1% of consultants the patient is older than 75 and 69% were 15-59 year olds. Even if a child does not have beta thalassemia major or intermedia, they can still be a carrier, possibly resulting in future generations of their offspring having beta thalassemia. The medical cases of splenectomies have been declining in recent years due to decreased prevalence of hypersplenism in adequately transfused patients. The oral chelator deferasirox was approved for use in 2005 in some countries,[37][38] it offers some hope with compliance at a higher cost. Men accounted for 53% of hospital consultant episodes and women accounted for 47%. Thalassemia carrier screening programs have educational programs in schools, armed forces, and through mass media as well as providing counseling to carriers and carrier couples. [25] The following associative signs can attest to the severity of the phenotype: pallor, poor growth, inadequate food intake, splenomegaly, jaundice, maxillary hyperplasia, dental malocclusion, cholelithiasis, systolic ejection murmur in the presence of severe anemia and pathologic fractures. Transmission is autosomal recessive; however, dominant mutations and compound heterozygotes have been reported. mutations are characterized as (β+) if they allow some β chain formation to occur. If you and your partner both have the trait for the main type of thalassaemia (beta thalassaemia), there's a: If both of you are carriers and you're planning to have a baby, talk to your GP about getting a referral to a genetic counsellor, who can explain the risks to your children and what your options are. The type of treatment a person receives depends on how severe the thalassemia is. [6] Reductions in HbA available overall to fill the red blood cells in turn leads to microcytic anemia. Bone marrow transplantation is the only cure and is indicated for patients with severe thalassemia major. [49] Although not life-threatening on its own, it can affect quality of life due to the anemia. Thalassemia carrier is an individual who has one mutated gene that codes information for the normal production of red blood cells. Iron rich patients need a splenectomy to reduce the probability of an iron overload. Thalassemia minor, intermediate and major. A blood test can identify adults who carry the gene for beta thalassaemia. Thalassemia minima is mild and causes no problems. Family studies can be done to evaluate carrier status and the types of mutations present in other family members. A study aimed at detecting the genes that could give rise to offspring with sickle cell disease. It is passed from parents to children. Physicians note these signs as associative due to this disease's complexity. People with beta-thalassemia carrier state (heterozygous) show no important clinical effects since the activity of their normal beta-globin gene makes enough stable globin. [55], The disorder affects all genders but is more prevalent in certain ethnicities and age groups. The Children's Hospital Oakland formed an international network to combat thalassemia. Being a carrier of the trait is sometimes known as having the thalassaemia trait or having thalassaemia minor. The complete absence of beta-globin synthesis is de… Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. The technology is based on delivery of a lentiviral vector carrying both the human β-globin gene and an ankyrin insulator to improve gene transcription and translation, and boost levels of β-globin production. Hemoblogin's normal alpha and beta subunits each have an iron-containing central portion (heme) that allows the protein chain of a subunit to fold around it. [39], Scientists at Weill Cornell Medical College have developed a gene therapy strategy that could feasibly treat both beta-thalassemia and sickle cell disease. Patients diagnosed with beta thalassemia have MCH ≤ 26 pg and an RDW < 19. Depending on the specific type of thalassemia a parent has, that person's children have different chances that they will also have the disorder or be a carrier … Depending on the amount of hemoglobin produced, this type of sickle cell disease … heterozygous for beta0 - ie beta0/beta. For pregnant women, who are carriers of beta-thalassemia blood disorder, it is best to undergo the screening procedure before the first 10 weeks of pregnancy. The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier (PDF, 804kb) or a delta beta thalassaemia carrier (PDF, 779kb). In people with beta thalassemia… [1] These complications are mostly found in thalassemia major and intermedia patients. [57], Thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin, hereditary persistence of fetal hemoglobin, stretches of DNA that play important roles in regulating produced protein levels, "Beta Thalassemia Treatment & Management", "How Are Thalassemias Diagnosed? Of 10,148 patients, 1,739 patients had a hemoglobin phenotype and RDW consistent with beta thalassemia. [27], Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. [51][52] Other Mediterranean peoples, as well as those in the vicinity of the Mediterranean, also have high incidence rates, including people from West Asia and North Africa. There have been 4,000 hospitalized cases in England in 2002 and 9,233 consultant episodes for thalassemia. The iron overload can be removed by Deferasirox, an oral iron chelator, which has a dose-dependent effect on iron burden. "Exjade® (deferasirox, ICL670) in the treatment of chronic iron overload associated with blood transfusion", "WHO | Global epidemiology of haemoglobin disorders and derived service indicators", "Chapter 47. [22][23], Family history and ancestry are factors that increase the risk of beta thalassemia. Patients are often monitored without treatment. … If you're planning to have a child and you know you're a carrier, it's a good idea for your partner to be tested as well. To ensure quality blood transfusions, the packed red blood cells should be leucoreduced with a minimum of 40g of hemoglobin content. Being a carrier of thalassemia does not cause known health … The carrier incidence of beta thalassaemia in the UK amongst Asian communities is (1): 1 in 7 to 1 in 10 for Gujeratis. The severity of the disease depends on the nature of the mutation. The camera is inserted along with four other trocars: one placed in the left subcostal area, one inserted at the midpoint between the first and third, one 4 cm right of the midline, and the fourth positioned on the midline to retract the spleen. [44] During normal iron homeostasis the circulating iron is bound to transferrin, but with an iron overload, the ability for transferrin to bind iron is exceeded and non-transferrin bound iron is formed. All people with thalassemia are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gallstones. Individuals with beta thalassemia major usually present within the first two years of life with severe anemia, poor growth, and skeletal abnormalities during infancy. Thalassaemia mainly affects people who are from, or who have family members originally from: You can have a blood test to see if you're a carrier if you think you may be at risk. People with thalassemia make defective hemoglobin, the compound in blood that carries oxygen. [2] The monthly transfusions promote normal growth, physical activities, suppress bone marrow activity, and minimize iron accumulation. This happens because the mutation obliterates the boundary between the intronic and exonic portions of the DNA template. A genetic counsellor will discuss the result and implications with you if you're found to have the trait. By having leucoreduced blood packets, the patient is at a lower risk to develop adverse reactions by contaminated white cells and preventing platelet alloimmunisation. The Thalassemias: Disorders of Globin Synthesis", "Thalassemia: Genetic Blood Disorder Expected To Double In Next Few Decades", "In vivo correction of anaemia in β-thalassemic mice by γPNA-mediated gene editing with nanoparticle delivery", Glucose-6-phosphate dehydrogenase deficiency, Hereditary persistence of fetal hemoglobin, Warm antibody autoimmune hemolytic anemia, Mean corpuscular hemoglobin concentration, https://en.wikipedia.org/w/index.php?title=Beta_thalassemia&oldid=995058727, Disorders of globin and globulin proteins, Wikipedia articles needing page number citations from May 2012, Articles with unsourced statements from September 2019, Articles with unsourced statements from August 2020, Articles with unsourced statements from January 2019, Articles with unsourced statements from August 2018, Articles with unsourced statements from May 2018, Articles with unsourced statements from July 2019, Creative Commons Attribution-ShareAlike License. Patients diagnosed with beta thalassemia have MCH ≤ 26 pg and an RDW < 19. Beta thalassemias (β thalassemias) are a group of inherited blood disorders. The thalassemia carrier is also known as thalassemia trait or thalassemia … A study aimed at detecting the genes that could give rise to offspring with sickle cell disease. There are two forms of beta thalassemia: thalassemia minor and thalassemia … 1 in … If you have anaemia, it's important not to take iron supplements for it unless you're diagnosed with iron deficiency anaemia. Thalassemias are inherited blood disorders. 1 in 20 for South Indians. Being a … Patients may require episodic blood transfusions. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. DNA contains both the instructions (genes) for stringing amino acids together into proteins, as well as stretches of DNA that play important roles in regulating produced protein levels. [3] This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. [32] Screening has shown reduced incidence; by 1995 the prevalence in Italy reduced from 1:250 to 1:4000, and a 95% decrease in that region. beta trait is a beta ° ones.. but since partner does not carry beta thal, there is no risk of severe beta genotype. Patients with allergic transfusion reactions or unusual red cell antibodies must received “washed red cells” or “cryopreserved red cells.” Washed red cells have been removed of plasma proteins that would have become a target of the patient's antibodies allowing the transfusion to be carried out safely. Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Mutations are characterized as (βo) if they prevent any formation of β chains,[48] Beta thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry. Skeletal changes associated with expansion of the bone marrow: All beta thalassemias may exhibit abnormal red blood cells, a family history is followed by DNA analysis. [10] Heart failure, growth impairment, diabetes and osteoporosis are life-threatening conditions which can be caused by TM. Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta thalassemia. Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. [56] “It is the world’s most common genetic blood disorder and is rapidly increasing”. Normal hemoglobin has two alpha and two beta peptide chains. [4] Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. If you're a carrier of thalassaemia, it means you carry one of the faulty genes that cause thalassaemia, but you do not have thalassaemia yourself. You can find more detailed information about some of the other types of carrier in the following leaflets: Page last reviewed: 27 March 2019 Which children are at risk for beta thalassemia? CRISPR Therapeutics and Vertex Pharmaceuticals are taking action to start a first clinical trial with CRISPR/Cas9 in Europe in 2018. These are the carriers of beta thalassemia. Transplantation can eliminate a patient's dependence on transfusions. 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. Next review due: 27 March 2022, delta beta thalassaemia carrier (PDF, 779kb), around the Mediterranean, including Italy, Greece and Cyprus, you have a family history of thalassaemia or the thalassaemia trait, you're sexually active and want to find out if you're at risk of having a child with thalassaemia, your partner is known to have the thalassaemia trait, 1 in 4 chance each child you have will not have thalassaemia or carry the thalassaemia trait, 1 in 2 chance each child you have will be a carrier of thalassaemia, but will not have the condition themselves, 1 in 4 chance each child you have will be born with thalassaemia, trying pre-implantation genetic diagnosis (PGD), although this is not widely available in the UK. But you will be a carrier of the disorder. Alpha thalassemia trait and beta thalassemia trait are two forms of the condition. Every unit of transfused blood contains 200–250 mg of iron and the body has no natural mechanism to remove excess iron. Microcytic anemia ultimately develops in respect to inadequate HBB protein for sufficient red blood cell functioning. There are two types of thalassemia trait: Alpha thalassemia trait and Beta thalassemia trait. Countries have programs distributing information about the reproductive risks associated with carriers of haemoglobinopathies. Two major groups of mutations can be distinguished: Alleles without a mutation that reduces function are characterized as (β). Beta-thalassemia minor (beta-thalassemia trait or beta-thalassemia carrier) Heterozygous betaN/beta 0 or beta N /beta + Usually clinically asymptomatic, but some patients may have mild microcytic anemia: Heterozygous beta N /beta ++ (silent carriers) Silent carriers … A carrier of thalassemia trait is a healthy person. Marion A. Koerper, MD UCSF School of Medicine San Francisco, CA. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. [20] Because all the coding sections may still be present, normal hemoglobin may be produced and the added genetic material, if it produces pathology, instead disrupts regulatory functions enough to produce anemia. Beta thalassemia is a blood disorder that reduces the production of hemoglobin. It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait. The more severe the thalassemia, the less hemoglobin the body has, and … [24], Abdominal pain due to hypersplenism, splenic infarction and right-upper quadrant pain caused by gallstones are major clinical manifestations. [31] This screening procedure proved insensitive in populations of West African ancestry because of the indicators has high prevalence of alpha thalassemia. If one parent has beta thalassemia trait and one parent has sickle cell trait, there is a 25 percent (1 in 4) chance with each pregnancy of having a child with sickle cell disease. The major Mediterranean islands (except the Balearics) such as Sicily, Sardinia, Corsica, Cyprus, Malta and Crete are heavily affected in particular. Anyone can be a carrier of thalassaemia, but it's much more common in people from certain ethnic backgrounds. The primary aim is to bind to and remove iron from the body and a rate equal to the rate of transfusional iron input or greater than iron input.[45]. At least 9 different genes direct the … It is a type of sickle cell disease. Bone marrow transplants can be curative for some children. Menu - NHLBI, NIH", "Carrier screening for Beta-thalassaemia: a review of international practice", "Screening for the beta-thalassaemia trait: hazards among populations of West African Ancestry", "HLA-matched sibling bone marrow transplantation for β-thalassemia major", "Gene Therapy Shows Promise for Treating Beta-Thalassemia and Sickle Cell Disease", "Splenectomy for hematological disorders", "Blood Transfusion Therapy in β-Thalassaemia Major". Thalassemia major is a severe … [40], Patients with thalassemia major are more inclined to have a splenectomy. [50], The beta form of thalassemia is particularly prevalent among the Mediterranean peoples and this geographical association is responsible for its naming: thalassa (θάλασσα) is the Greek word for sea and haima (αἷμα) is the Greek word for blood. If you and your partner both have the trait for the main type of thalassaemia (beta thalassaemia), there's a: 1 in 4 chance each child you have will not have thalassaemia or carry the thalassaemia trait ; 1 in 2 chance each child you have will be a carrier of thalassaemia, … While many of those with minor status do not require transfusion therapy, they still risk iron overload, particularly in the liver. This can cause symptoms such as tiredness and pale skin, but may only be picked up with a blood test. [citation needed] In Europe, the highest concentrations of the disease are found in Greece and the Turkish coastal regions. Beta thalassemia … This type of anaemia is different from iron deficiency anaemia and does not need any treatment. Of 10,148 patients, 1,739 patients had a hemoglobin phenotype and RDW con… On the operating table the patient must be placed at a 30˚ to 40˚ position with his or her left arm elevated above the head to properly make the incision. When thalassemia is called “alpha” or “beta,” this refers to the part of hemoglobin that isn’t being made. As with about half of all hereditary diseases,[18] an inherited mutation damages the assembly of the messenger-type RNA (mRNA) that is transcribed from a chromosome. Most often, mutations occur in the promoter regions preceding the beta-globin genes. The alpha globin one-gene deletion is consistent with alpha thalassemia silent carrier. It has been announced the starting of the first clinical trial with CRISPR/Cas9 in Europe in 2018. But if you have a more severe form of the disorder, you may need regular blood transfusions. Thalassemia patients make defective hemoglobin. [53], The thalassemia trait may confer a degree of protection against malaria,[54] which is or was prevalent in the regions where the trait is common, thus conferring a selective survival advantage on carriers (known as heterozygous advantage), thus perpetuating the mutation. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. After the narrowing of patients, the HbA2 levels were tested presenting 77 patients with beta thalassemia. Screening for thalassaemia is offered to all pregnant women in England. You can request the test from your GP surgery. Conventional laboratory methods for screening include the assessment of … The prevention of iron overload protects patients from morbidity and mortality. The child is probably an alpha + beta thalassemia carrier. The body's inability to construct new beta-chains leads to the underproduction of HbA. Popular chelators include deferoxamine and deferiprone. The different surgical techniques are the open and laparoscopic method. Deferasirox is a vital part in the patients health after blood transfusions. A child inherits two beta globin genes (one from each parent). Global annual incidence is estimated at one in 100,000. It represents a potentially toxic iron form due to its high propensity to induce oxygen species and is responsible for cellular damage. The Human Fertilisation and Embryology Authority (HFEA) has more information about PGD. Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (β. Hair-on-end (or "crew cut") on skull X-ray: new bone formation due to the inner table. Repeated blood transfusions cause severe problems associated with iron overload. [33] Patients receive frequent blood transfusions that lead to or potentiate iron overload. [7] Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. However, diagnosing thalassemiæ from symptoms alone is inadequate. [citation needed], Another risk factor is ancestry. If you carry thalassaemia, you will not ever develop thalassaemia, but you may sometimes experience mild anaemia. The transfusion programs available involve lifelong regular blood transfusion to main the pre-transfusion hemoglobin level above 9-10 g/gL. Nondeletion forms: These defects, in general, involve a single base substitution or small insertions near or upstream of the β globin gene. Depending on family history, if a person's parents or grandparents had beta thalassemia major or intermedia, there is a 75% (3 out of 4) probability (see inheritance chart at top of page) of the mutated gene being inherited by an offspring. Less often, abnormal splice variants are believed to contribute to the disease. Alternatively, anyone can ask to have a free test to find out if they're a carrier at any point. They must have: confirmed laboratory diagnosis of thalassemia major, and hemoglobin levels less than 7g/dL, to be eligible for the transfusion. [5], HBB blockage over time leads to decreased beta-chain synthesis. But you may develop mild anaemia, which is where there are low levels of haemoglobin (a substance that transports oxygen) in the blood. Since the mutation may be a change in only a single base (single-nucleotide polymorphism), on-going efforts seek gene therapies to make that single correction. Minor often coexists with other conditions such as asthma and can cause iron overload of the liver and in those with non-alcoholic fatty liver disease, lead to more severe outcomes. Advances in iron chelation treatments allow patients with thalassemia major to live long lives with access to proper treatment. Recall that hemoglobin is the protein that is affected in thalassemia. People diagnosed with heterozygous (carrier) β-thalassemia have some protection against coronary heart disease. [8], Three main forms have been described: thalassemia major, thalassemia intermedia, and thalassemia minor. Learn how thalassemia is … Mutations are characterized as (βo) if they prevent any formation of β chains, mutations are characterized as (β+) if they allow some β chain formation to occur. 20 people die per year causing thalassemia to be listed as a “rare disease”. Patients with hypersplenism are inclined to have a lower amount of healthy blood cells in their body than normal and reveal symptoms of anemia. The Inheritance of Thalassemia. [11] The main cardiac abnormalities seen as a result of thalassemia and iron overload include left ventricular systolic and diastolic dysfunction, pulmonary hypertension, valvulopathy, arrhythmias, and pericarditis. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. The decrease in incidence has benefitted those affected with thalassemia, as the demand for blood has decreased, therefore improving the supply of treatment. This page was last edited on 19 December 2020, at 00:32. [21] Thalassemias typically affect only the mRNAs for production of the beta chains (hence the name). 1 Hb Electrophoresis And … So, there is no problem for that couple. Beta thalassemia is an inherited red blood cell disorder that results in the complete absence or decreased synthesis of the beta globin chains of hemoglobin. The beta globin gene is located on chromosome 11. Normal adult hemoglobin contains 2 alpha and 2 beta subunits. [2] The laparoscopic method requires longer operating time but a shorter recovery period with no surgical scar. If you have the thalassaemia trait, you're at risk of having children with thalassaemia if your partner is also a carrier or has thalassaemia themselves. How is thalassemia treated? You will not develop thalassaemia at any point if you're a carrier of it. In the United States, thalassemia's prevalence is approximately 1 in 272,000 or 1,000 people. [citation needed], Affected children require regular lifelong blood transfusion and can have complications, which may involve the spleen. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body. - NHLBI, NIH", "What Are the Signs and Symptoms of Thalassemias? The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic and is defined by specific hematological features. 1 in 10 for Sindis. The … The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.If you have mild thalassemia, you may not need treatment. [30] Further genetic analysis may include HPLC should routine electrophoresis prove difficult. [34] Iron chelation treatment is necessary to prevent damage to internal organs. [42] Pre-storage filtration of whole blood offers high efficiency for removal and low residual of leukocytes; It is the preferred method of leucoreduction compared to pre-transfusion and bedside filtration. Patients are transfused by meeting strict criteria ensuring their safety. Based on symptoms, tests are ordered for a differential diagnosis. 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. Genetic counseling is recommended and prenatal diagnosis may be offered. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. 7% of the world's population are carriers and 400,000 babies are born with the trait annually. Increased gastrointestinal iron absorption is seen in all grades of beta thalassemia, and increased red blood cell destruction by the spleen due to ineffective erythropoiesis further releases additional iron into the bloodstream.[12]. [citation needed], Beta thalassemia is a hereditary disease affecting hemoglobin. Thalassemia intermedia can cause problems based on the severity of the anemia. Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited. In most cases the treating physician uses a clinical prediagnosis assessing anemia symptoms: fatigue, breathlessness and poor exercise tolerance. These problems include delayed growth, weak bones, and enlarged spleen. In that respect, the various thalassemias resemble another genetic disorder affecting hemoglobin, sickle-cell disease. [9], Excess iron causes serious complications within the liver, heart, and endocrine glands. DNA testing is not routine, but can help diagnose thalassemia and determine carrier status. Close menu. Beta thalassemia is an inherited problem. All pregnant women have to … A serum ferritin test checks iron levels and can point to further treatment. Beta thalassemia is an inherited blood disorder in which the body doesn't make hemoglobin normally. Hemoglobin is made of heme, alpha globins, and beta globins. The elevated Hgb A2 and Hgb F suggest beta-thalassemia trait. [47] Alleles without a mutation that reduces function are characterized as (β). Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease. Untreated thalassemia major eventually leads to death, usually by heart failure; therefore, birth screening is very important. Thalassemia is a hereditary condition where your body produces fewer healthy red blood cells. [43], Iron overload is an unavoidable consequence of chronic transfusion therapy, necessary for patients with beta thalassemia. If it is unnecessary to remove the entire spleen a partial splenectomy may occur; this method preserves some of the immune function while reducing the probability of hypersplenism.