How do you treat beta thalassemia?
The patients of beta thalassemia, according to doctors, need lifelong care that includes regular blood transfusions and medicines. The disease is quite common, like sickle cell anemia, among the Tharu community.
What is the best treatment for thalassemia?
Your healthcare provider will figure out the best treatment based on:
- Your age, overall health, and medical history
- How sick you are
- How well you can handle certain medicines, procedures, or therapies
- How long the condition is expected to last
- Your opinion or preference
How long can you live with thalassemia?
Without treatment, the median survival time for myelodysplastic syndromes range from less than a year to approximately 12 years, depending on factors such as number of chromosome abnormalities and level of red blood cells. However, treatment is often successful, especially for certain types of this condition.
What is beta thallasemia and is it dangerous?
The homozygous form of beta thalassemia (thalassemia major) is not immediately lethal because there is some production of Hb F, which does not contain beta chains. However, there is severe anemia with complications including progressive enlargement of the liver , spleen and heart and malformation of bones.
How is beta thalassemia treated?
Treatment may include:Regular blood transfusions.Medicines to reduce extra iron from your body (called iron chelation therapy)Surgery to remove the spleen, if needed.Daily folic acid.Surgery to remove the gallbladder.Regular checks of heart and liver function.Genetic tests.Bone marrow transplant.
What is the history of beta thalassemia?
Beta thalassemia minor, also known as beta thalassemia trait, is a common condition. Beta thalassemia major was first described in the medical literature in 1925 by an American physician – Thomas Cooley. Beta thalassemia major is also known as Cooley's anemia.
How was beta thalassemia discovered?
Thalassemia, or Mediterranean anemia, was first described in 1925 by a Detroit physician who studied Italian children with severe anemia (low levels of red blood cells), poor growth, huge abdominal organs, and early childhood death. In 1946, the cause of thalassemia was found to be an abnormal hemoglobin structure.
What current research is being done to develop a cure for thalassemia?
Scientists are working to develop a gene therapy that may offer a cure for thalassemia. Such a treatment might involve inserting a normal beta globin gene (the gene that is abnormal in this disease) into the patient's stem cells, the immature bone marrow cells that are the precursors of all other cells in the blood.
How did thalassemia start?
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
Can thalassemia get Covid vaccine?
As thalassemia is considered to be a severe underlying medical condition, both adults and children with thalassemia were excluded from the COVID-19 vaccine clinical trials.
How does Crispr treat beta thalassemia?
CRISPR is used to correct the hemoglobin E mutation by homology-directed repair using a single-stranded DNA template that includes the normal HBB genetic sequence. The method was implemented in extracted iPSCs, and the presence of the correct sequence was validated by Sanger sequencing.
Do you think someone with beta thalassemia would be treated with EPO?
Because of its stimulating effect on RBC production, erythropoietin (Epo) is used to treat anemia, for example, in patients on dialysis or on chemotherapy. In β-thalassemia, where Epo levels are low relative to the degree of anemia, Epo treatment improves the anemia state.
Who discovered the cause of thalassemia?
Thalassemia major is widely referred to as Cooley's anemia in reference to Dr. Thomas Benton Cooley, the renowned researcher who discovered the disorder.
Is there research being done on beta thalassemia?
After three decades of research, Memorial Sloan Kettering Cancer Center investigators may have found a new treatment option for patients with an inherited blood disorder called beta (β)-thalassemia. The approach, led by MSK physician-scientist Michel Sadelain, involves using a new stem-cell-based form of gene therapy.
Can thalassemia be cured by gene therapy?
Depending upon whether the genetic defects or deletion lies in transmission of α or β globin chain gene, thalassemias are classified into α and β-thalassemias. Thus, thalassemias could be cured by introducing or correcting a gene into the hematopoietic compartment or a single stem cell.
What is gene therapy for beta thalassemia?
β-thalassemia gene therapy is based on the transfer of a human β-globin gene into autologous HSCs, which resolves the absence of compatible donors and eliminates the risk of GVHD and graft failure associated with allogeneic BMT.
How is beta thalassemia defined?
Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.
Is beta thalassemia similar to sickle cell?
Beta thalassemia disease is not a form of sickle cell disease, but it is a serious lifelong illness. People who have beta thalassemia disease do not make enough hemoglobin. The amount of hemoglobin a child can produce, determines whether a child has: Beta Thalassemia Intermedia.
How old is beta thalassemia?
Beta thalassemia is most often found in people who are from Greek, Italian, African, or Asian origin. The diagnosis is most often made between 6 and 12 years old. These tests may be able to tell if you are a carrier, and can pass the disorder on to your children:
What is thalassemia inherited?
Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body.
What is the cause of hemoglobin to decrease?
Thalassemia is an inherited blood disorder. It causes the body to make less hemoglobin. There are several types of beta thalassemia. Different people will have different symptoms, based on which type of beta thalassemia is inherited. Treatment of beta thalassemia may include medicines and regular blood transfusions.
What are the symptoms of a person born with thalassemia?
Beta thalassemia major: This is the most severe type of this disorder. Children born with this type will have symptoms early in life that include: Pale skin. Fussy.
How many genes are damaged in anemia?
There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan. Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes less severe anemia.
What is hemoglobin electrophoresis?
Hemoglobin electrophoresis with hemoglobin F and A2 quantitation: A lab test that differentiates the types of hemoglobin. All of these studies can be done from a single blood sample. In a pregnant woman, the baby is diagnosed using CVS ( chorionic villus sampling) or amniocentesis.
Can thalassemia cause anemia?
Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
Why does beta thalassemia occur?
Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the nature of the mutation. HBB blockage over time leads to decreased beta-chain synthesis. The body's inability to construct new beta-chains leads to the underproduction of HbA (adult hemoglobin).
What are the factors that increase the risk of beta thalassemia?
Family history and ancestry are factors that increase the risk of beta thalassemia. 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. 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.
What is thalassemia inherited?
Depends on type (see types) Beta thalassemias ( β thalassemias) are a group of inherited blood disorders. 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. Global annual incidence is estimated ...
Why is iron chelation important?
Iron chelation treatment is necessary to prevent damage to internal organs in cases of iron overload. Advances in iron chelation treatments allow patients with thalassemia major to live long lives with access to proper treatment. Popular chelators include deferoxamine and deferiprone.
What are the symptoms of beta thalassemia?
Severe symptoms include liver cirrhosis, liver fibrosis, and in extreme cases, liver cancer. Heart failure, growth impairment, diabetes and osteoporosis are life-threatening conditions which can be caused by beta thalassemia major.
What are the complications of thalassemia?
Some people with thalassemia are susceptible to health complications that involve the spleen (hypersplenism) and gallstones (due to hyperbilirubinemia from peripheral hemolysis). These complications are mostly found in thalassemia major and intermedia patients.
Where is beta thalassemia most prevalent?
Beta thalassemia is most prevalent in the "thalassemia belt" which includes areas in Sub-Saharan Africa, the Mediterranean extending into the Middle East and Southeast Asia.
BETA-THALASSEMIA TREATMENTS
As research continues to evolve, so does our understanding of beta (β)-thalassemia, and new treatment options are being developed.
Prenatal Screening and Genetic Counseling
Because beta-thalassemia is a genetic disease × Genetic disease a disease that is caused by a genetic change , it can be identified and diagnosed through prenatal screening. This can provide early diagnosis and allow people to better understand how beta-thalassemia can be managed.
Medical Evolutions
Currently, there are medications adults can pair with red blood cell transfusions to help address some of the symptoms associated with beta-thalassemia.
Gene Therapy
Similar to a donor stem cell (or allogeneic) transplant, gene therapy is another treatment option that has the potential to treat beta-thalassemia in some patients. Unlike a stem cell transplant, however, gene therapy uses a patient's own cells.
What is the treatment for thalassemia?
These treatments include blood transfusions, iron chelation (ke-LAY-shun) therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they're used much less often.
Can thalassemia be treated?
Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. They’ll likely need little or no treatment.
Can stem cells cure thalassemia?
Stem cells are the cells inside bone marrow that make red blood cells and other types of blood cells. A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have severe thalassemias are able to find a good donor match and have the risky procedure. For more information, go to the Health Topics ...
Overview
Treatment
Affected children require regular lifelong blood transfusions. Bone marrow transplants can be curative for some children. Patients receive frequent blood transfusions that lead to or potentiate iron overload. Iron chelation treatment is necessary to prevent damage to internal organs in cases of iron overload. Advances in iron chelation treatments allow patients with thalassemia major t…
Signs and symptoms
Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from asymptomatic or mild symptoms to severe anemia requiring lifelong transfusions. Individuals with beta thalassemia major (those who are homozygous for thalassemia mutations, or inheriting 2 mutations) usually present within the first two years of life with …
Cause
Two major groups of mutations can be distinguished:
• Nondeletion forms: These defects, in general, involve a single base substitution or small insertions near or upstream of the β globin gene. Most often, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are believed to contribute to the disease.
Risk factors
Family history and ancestry are factors that increase the risk of beta thalassemia. 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. 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 h…
Diagnosis
Abdominal pain due to hypersplenism, splenic infarction and right-upper quadrant pain caused by gallstones are major clinical manifestations. However, diagnosing thalassemia from symptoms alone is inadequate. Physicians note these signs as associative due to this disease's complexity. The following associative signs can attest to the severity of the phenotype: pallor, poor growt…
Prevention
Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. A study aimed at detecting the genes that could give rise to offspring with sickle cell disease. Patients diagnosed with beta thalassemia have MCH ≤ 26 pg and an RDW < 19. Of 10,148 patients, 1,739 patients ha…
Epidemiology
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. In Europe, the highest concentrations of the disease are found in Greece and the Turkish coastal regions. The major Mediterranean islands (except the Balearics) such as Sicily, Sardinia, Corsica, Cyprus, Malta and Crete are heavily affected i…