Knowing thalassemia, its symptoms and treatments

Thalassemia is a group of inherited blood disorders that affect the production of haemoglobin, a protein in red blood cells that carries oxygen throughout the body. People with thalassemia have an abnormal or reduced production of haemoglobin, which can cause anaemia and other health complications.

What is Thalassaemia, what are its symptoms?

There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Alpha thalassemia occurs when there is a problem with the production of alpha-globin, a component of haemoglobin. Beta thalassemia occurs when there is a problem with the production of beta-globin, another component of haemoglobin.

The symptoms of thalassemia can vary depending on the type and severity of the condition. In general, people with thalassemia may experience fatigue, weakness, pale skin, shortness of breath, dizziness, and a rapid or irregular heartbeat. They may also have an enlarged spleen and liver, jaundice (yellowing of the skin and eyes), and delayed growth and development in children.

Severe forms of thalassemia can cause complications such as bone deformities, infections, and organ damage. These complications can be life-threatening without proper treatment. Thalassemia is typically diagnosed through a blood test and can be managed with treatments such as blood transfusions, iron chelation therapy, and bone marrow transplantation.

Since it's an inherited disease, are precautionary measures possible?

Thalassemia is an autosomal recessive genetic disease which means that when to carriers marry, there is a 25 percent risk of transmission of thalassemia major in each pregnancy. Carriers can know their status by screening by HPLC and later confirming with DNA test. In their at-risk pregnancies, prenatal diagnosis can be offered by fetal DNA mutation analysis around 12 to 16 weeks of pregnancy after chorionic villus sampling or amniocentesis. Invitro fertilization (test tube baby) and Preimplantation genetic diagnosis is also possible for thalassemia carriers to ensure prevention of transmission of genetic disease to their future generations.

What are the treatments other than blood transfusion?

Blood transfusions are a common treatment for severe cases of thalassemia. It is a process of providing the patient with healthy red blood cells that can function properly. However, there are other options available that can help manage the symptoms and improve the patient's quality of life. The best treatment approach will depend on the patient's individual circumstances and the severity of their condition. It is important for patients with thalassemia to work closely with their healthcare team to determine the most appropriate treatment plan.

Bone marrow transplant: A doctor may recommend a bone marrow transplant for thalassemia patients with severe symptoms or complications from blood transfusions. The decision to undergo a bone marrow transplant is based on a variety of factors, including the patient's age, overall health, and the availability of a compatible donor. It is a treatment option for severe cases of thalassemia. It involves replacing the patient's defective bone marrow with healthy bone marrow from a compatible donor. While it can be curative, it carries risks and finding a compatible donor can be challenging.

Iron chelation therapy: This is one of the popular treatment options. Blood transfusions can lead to an excess of iron in the body, which can cause organ damage over time. Iron chelation therapy involves administering drugs that bind to excess iron and remove it from the body.

Folic acid supplements: Folic acid is a vitamin that is important to produce red blood cells. Doctors sometimes recommend the patients with thalassemia to use these as they may benefit from taking folic acid supplements. These supplements help support the production of healthy red blood cells.

Gene therapy: Gene therapy or Zynteglo has been recently approved as a treatment for thalassemia that involves inserting a healthy copy of the affected gene into the patient's cells. Though, it is important to note that applications and benefits of gene therapy are yet to demonstrated in large scale settings and it is not started in India yet.

Lifestyle changes: Patients with thalassemia can live a better life by making lifestyle changes such as getting regular exercise, eating a healthy diet, and avoiding infections. Regular monitoring of iron levels, vaccinations, and avoiding iron-rich foods and supplements are also recommended. Genetic counselling for family planning may also be considered to prevent the disease.

Is it a risk for Thalassaemia-affected persons to marry and have children?

If both the parents are carriers of Thalassemia, the likelihood of a kid having thalassemia is greatly increased. There is a risk of having a child with thalassaemia if both partners carry the thalassaemia gene. In such cases, genetic counselling is recommended before marriage or having children. Electrophoresis or HPLC test can help screen thalassemia carriers. Genetic testing based on DNA tests such as ARMS PCR, Sanger sequencing or next-generation sequencing ensures confirmation, giving expectant parents precise information to choose among the various options. This can help the couple understand their risk of having a child with thalassaemia and explore options such as prenatal testing or assisted reproductive technologies like IVF (in-vitro fertilization) with pre-implantation genetic diagnosis to avoid passing on the condition to their offspring.

How spreading awareness of the disease will reduce its impact on population?

Raising awareness about thalassemia can help people understand the risk factors, symptoms, and treatment options available. As many people with thalassemia are not aware of their condition until they develop symptoms, which can be debilitating and life-threatening, it is important to encourage people to get tested for thalassemia and other genetic disorders before starting a family. This will allow people to reduce the risk of passing the condition on to future generations.

People with thalassemia struggle a lot so spreading awareness around it can help reduce the stigma and discrimination that people with the condition often face. It can also help promote research and funding for better treatments and a potential cure. Ultimately, increasing awareness about thalassemia can improve the quality of life for people living with the condition and help prevent unnecessary suffering.

Spreading awareness of thalassemia can reduce its impact on the population in several ways. First and foremost, awareness campaigns can help educate people about the disorder's prevalence, symptoms, and treatment options. This can encourage people to get tested for thalassemia before planning to have children and seek medical care promptly if they experience symptoms.

(Dr.Vasundhara Tamhankar, is Clinical Geneticist and Paediatrician, MedGenome Labs & CMG, Mumbai)