Thalassemia is a genetic blood disorder. It affects the body's ability to produce haemoglobin, the protein in red blood cells that carries oxygen. Thalassemia can cause anaemia and other health problems.
- Gene mutations that control the production of haemoglobin are the cause of thalassemia.
- Thalassemia arises from insufficient production of haemoglobin, a vital protein in red blood cells transporting oxygen throughout the body, resulting in a blood disorder.
- People with thalassemia may have mild to severe symptoms, depending on the type and severity of the condition.
- Symptoms of thalassemia can include fatigue, weakness, pale or yellowish skin, bone deformities, and complications such as heart problems or organ damage.
- Treatment for thalassemia may include blood transfusions, iron chelation therapy to remove excess iron from the body, and, in some cases, bone marrow or stem cell transplantation.
- Experts diagnose thalassemia through blood tests and genetic testing.
- Individuals with thalassemia or those at risk of carrying the gene mutation may receive recommendations for genetic counselling.
Thalassemia, an inherited blood disorder, arises when the body produces an abnormal form or insufficient quantity of haemoglobin, the oxygen-carrying protein in red blood cells. This condition destroys many red blood cells, resulting in anaemia.
 |
| Thalassemia Awareness |
What are the causes of thalassemia?
Thalassemia arises from a defect in a gene crucial for producing one of two proteins composing haemoglobin:
Alpha thalassemia emerges when genes linked to alpha globin are missing or mutated, while beta thalassemia occurs due to similar gene defects affecting beta globin production.
Thalassemia encompasses various forms and numerous subtypes. Both alpha and beta thalassemia encompass two principal forms:
When both parents pass on the gene defect, thalassemia major occurs, while thalassemia minor arises when only one parent transmits the faulty gene, leaving carriers of the disease often asymptomatic.
Beta thalassemia major, also known as Cooley anaemia, represents the severe form of the disorder. Risk factors for thalassemia include Asian, Chinese, Mediterranean, or African-American ethnicity and a family history of the disorder.
What are the symptoms of thalassemia?
Alpha thalassemia major, the most severe form, can lead to stillbirth, occurring during birth or the late stages of pregnancy. Children born with beta-thalassemia major, also known as Cooley anaemia, typically appear normal at birth but develop severe anaemia within the first year of life. Additional symptoms may include bone deformities, fatigue, growth failure, shortness of breath, and jaundice (yellow skin). Individuals with minor alpha and beta thalassemia often exhibit small red blood cells but remain asymptomatic.
What are the lab tests for it?
Your healthcare provider will conduct a physical examination to detect signs of an enlarged spleen. They will then send a blood sample to a laboratory for testing. Under the microscope, red blood cells will exhibit small and irregular shapes. A complete blood count (CBC) will confirm the presence of anaemia. Haemoglobin electrophoresis will identify the abnormal form of haemoglobin, while mutational analysis can aid in detecting alpha thalassemia.
What is the treatment for thalassemia?
- Treatment for thalassemia major typically includes regular blood transfusions and folate supplements. However, individuals undergoing blood transfusions should avoid iron supplements to prevent excessive iron accumulation in the body, which can be harmful.
- Chelation therapy becomes necessary for individuals receiving frequent blood transfusions to remove excess iron from the body. In some cases, particularly in children, a bone marrow transplant may offer a potential treatment option to manage the disease.
- Without proper treatment, thalassemia major (type of it) can progress to heart failure and liver complications. Additionally, individuals with untreated thalassemia are at an increased risk of developing infections.
Severe thalassemia can lead to premature death, typically occurring between ages 20 and 30, primarily due to heart failure. However, receiving regular blood transfusions and undergoing therapy to eliminate excess iron from the body can significantly improve outcomes. Less severe forms of thalassemia typically do not shorten lifespan. If you have a family history of the condition and are considering having children, genetic counselling may be advisable.
Drs treat thalassemia through several methods:
1. Blood Transfusions: This involves receiving injections of red blood cells to restore normal levels of healthy red blood cells and haemoglobin. The frequency of transfusions varies depending on the severity of the condition, ranging from every two to four weeks for beta thalassemia major to every four months for moderate or severe thalassemia.
2. Iron Chelation: Excess iron accumulated from frequent blood transfusions can harm organs. Iron chelation therapy helps remove this excess iron from the body. It is often taken orally as a pill.
3. Folic Acid Supplements: Folic acid supplements can aid in healthy blood cell production.
4. Bone Marrow and Stem Cell Transplant: This is the only curative treatment for thalassemia. It involves receiving bone marrow or stem cells from a compatible related donor, typically a sibling, with matching human leukocyte antigens (HLA). The transplanted cells begin producing new, healthy blood cells within a month.
5. Luspatercept: This injection is administered every three weeks and helps stimulate the production of red blood cells. In the U.S., regulatory authorities have approved Luspatercept for treating transfusion-dependent beta-thalassemia.
 |
| A Happy Family after Beta Thalassemia Treatment |
Preventing thalassemia isn't possible, but genetic testing can identify whether you or your partner carry the gene. Armed with this knowledge, you can plan your pregnancy accordingly. If you suspect you or your partner may carry gene mutations for thalassemia, consult a genetic counsellor for family planning advice.
You'll require regular and thorough blood counts and blood iron tests. Your healthcare provider may suggest annual heart and liver function tests. Furthermore, they might advise undergoing viral infection tests due to the heightened infection susceptibility linked with thalassemia. It's also essential to undergo yearly tests to assess liver iron overload.
1. FAQs
Can thalassemia affect fertility?
Thalassemia can impact fertility in both men and women. In men, certain types of thalassemia may lead to reduced sperm count or impaired sperm function. In women, thalassemia-related complications, such as iron overload or hormonal imbalances, can affect menstrual cycles and fertility. However, advancements in treatment and management have improved fertility outcomes for many individuals with thalassemia.
2. Can thalassemia increase the risk of certain cancers?
While thalassemia primarily affects red blood cell production and can lead to various health complications, there's limited evidence suggesting an association between thalassemia and certain types of cancer. Some studies have proposed a potential link between thalassemia and an increased risk of liver cancer or certain blood-related cancers, such as leukaemia or lymphoma. Scientists need Further research to grasp the connection between thalassemia and cancer risk. Therefore, individuals with thalassemia should undergo regular medical screenings and maintain open communication with their healthcare providers to monitor for potential health concerns.
In conclusion, thalassemia is a genetic blood disorder that affects the production of haemoglobin and can lead to various health complications if left untreated. While it is difficult to prevent, genetic testing and counselling can provide valuable information for family planning. Treatment options, including blood transfusions, iron chelation therapy, and, in severe cases, bone marrow transplants, aim to manage symptoms and improve quality of life. Regular medical screenings and close monitoring are essential for individuals with thalassemia to detect and address potential health risks. With proper management and care, individuals with thalassemia can lead fulfilling lives and mitigate the risk of complications associated with the condition.