World Thalassemia Day: Everything You Need to Know From an Expert

Thalassemia is a hereditary blood disorder. It is passed from the parent to the child via the gene. This disorder includes a lack of oxygen-carrying proteins called hemoglobin, a key part of red blood cells. When your body lacks hemoglobin, red blood cells stop working properly. In addition, the RBC life will be shortened. This means less migration of healthy RBCs in the blood.

RBCs carry oxygen to every cell in the body. Oxygen acts as the food that cells use to function. A lack of healthy red blood cells means a lack of oxygen supply to all other cells in the body. This can lead to drowsiness in a person. You may feel tired, weak, and short of breath. This condition is called anemia.

Persons with thalassemia may have mild or acute anemia. Acute anemia is very serious and can lead to major organ damage. It can even cause death.

How Do Some Babies Have Thalassemia?

Major thalassemia babies are born to parents who are carriers of the thalassemia gene. According to a rough estimate, about 10,000 babies are born in Thalassemia in India each year. The best way to prevent or eliminate thalassemia is to screen all pregnant women for 9-12 weeks.

Thalassemia diagnosis

Thalassemia is diagnosed by blood tests such as a complete blood count (CBC) and a special hemoglobin test. Throughout the blood sample, CBC measures the amount of different types of blood cells such as hemoglobin and red blood cells. The hemoglobin test measures the type of hemoglobin in the blood.

Moderate and acute thalassemias are usually diagnosed in childhood. This is because signs and symptoms such as acute anemia usually occur early in the age of two. People with mild thalassemia may be diagnosed after regular blood tests to detect the presence of anemia.

Dr. Rahlbergava, Director and Head of Hematology, Hematology, and Bone Marrow Transplants at Fortis Memorial Institute in Gurugram, said about the treatment.

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transfusion

The main thalassemia treatment relies on regular and regular blood transfusions to keep Hb above 9 gm. percent. Helps prevent short stature of the foam and other skeletal and facial deformities. Recurrent lifelong transfusions 6 months after birth are required.

Iron chelation therapy

Blood transfusions are accompanied by iron deposition problems. This is because each blood transfusion increases iron deposition in various tissues such as the pituitary liver and heart, leading to premature death. Therefore, iron chelation therapy is also needed with transfused patients. It is either oral (Deflipron and Defreyrox) or IV desferoxmin. Serum ferritin is one of the surrogate markers of iron overload in patients with thalassemia. Must be done every 3 months. The increasing life expectancy is paying off for government efforts to provide free blood products and iron chelators.

Bone marrow or stem cell transplant

As is commonly known, bone marrow or stem cell transplantation is the only cure for thalassemia. If done at an early age, 80% of patients can be cured. The source of stem cells is either an HLA-matched brother or sister. Otherwise, you can try a perfectly matched HLA donor in various international registries. This process is called matching unrelated donor transplant.

Gene therapy

Gene therapy has gained a lot of traction in the field of hemoglobinopathy. Various studies have shown surprising results with minimal toxicity and sustained hemoglobin production. There is no significant risk of cancer or other sequelae.

We have come a long way. Perhaps the last decade will bring the much-needed cheers to Thalassemia. Until then, prevention is the only strategy in India to reduce the burden on the already expanded health care system.

The survival and quality of life of people suffering from the disease have improved significantly. It translates into:

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