Thalassemia is a group of genetic blood disorders characterized by abnormal production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. It is primarily inherited and can lead to anemia or a low level of red blood cells, resulting in fatigue, weakness, and various complications.
What Exactly Is Thalassemia?
The production of healthy red blood cells and hemoglobin is hampered by the genetic blood condition called thalassemia. Red blood cells contain the haemoglobin. It enables your red blood cells to carry oxygen throughout your body, supplying the other cells with nutrients. There are two types of thalassemia including alpha and beta. You could have a spectrum of mild to severe anemia-like symptoms as a result of thalassemia.
Your body and bone marrow both create less healthy haemoglobin proteins and fewer red blood cells if you have thalassemia. Lack of healthy red blood cells can deprive your body's cells of the oxygen they require to create energy and thrive because red blood cells play a crucial function in delivering oxygen to tissues in your body.
Symptoms of Thalassemia
Mild thalassemia symptoms are:
- Growth issues
- Late puberty
- Fatigue
- Breathing problems
- Dizziness
- Feeling cold
Severe symptoms of thalassemia are:
- Lack of appetite
- Yellow or pale skin
- Dark or tea-coloured urine
- An enlarged spleen, an organ in your belly involved in infection defence
- Bone abnormality like osteoporosis
Cause of Thalassemia
Four protein chains including two alpha and two beta, make up haemoglobin. Each chain—beta and alpha—contains genetic material, or genes, inherited from your parents. Your haemoglobin is controlled by these genes, which also regulate each chain. The absence and deficiency of any one of these genes are the main thalassemia causes.
Types of Thalassemia
To categorise the severity of the condition, thalassemia is divided into trait, minor, intermedia, and major categories. These labels show a spectrum in which having a thalassemia trait indicates that you may only have very few symptoms of anaemia or none. You may not need any therapy or treatment. Thalassemia major is the most dangerous kind that usually necessitates regular medical care.
The two different forms of thalassemia are:
Alpha: The four genes that create the alpha globin protein chains are inherited, two from each parent. You get alpha thalassemia when one or more genes are damaged. Whether you get anaemia symptoms and how severe they are will depend on how many faulty genes you inherit.
Beta: Two beta-globin genes are passed down to you, one from each parent. Depending on how many of your genes are defective and which link in the beta-globin protein chain the defect is located, your anaemia symptoms and the severity of your condition will vary.
Also Read: Thalassemia: An overview and the recent developments
Diagnosis of thalassemia
As symptoms typically occur within the first two years of your child's life, moderate and severe thalassemia are frequently diagnosed in children.
To identify thalassemia, your doctor may suggest a number of blood tests, including:
- A complete blood count (CBC) measures red blood cell amount (and size) as well as haemoglobin. Thalassemia patients have fewer normal red blood cells and less haemoglobin than average. They can also have red blood cells that are smaller than usual.
- Reticulocyte counts when your bone marrow may not be creating enough red blood cells.
- If you have an iron deficiency it will reveal the root of your anaemia.
- Haemoglobin electrophoresis, the diagnosis of beta-thalassemia.
- Using genetic testing to identify alpha thalassemia.
Treatment of thalassemia
Iron chelation and blood transfusions are essential thalassemia treatments.
Receiving red blood cell injections into a vein during a blood transfusion helps to replenish lost haemoglobin and red blood cell counts to their regular levels. If you have moderately severe thalassemia or beta thalassemia major, you will require transfusions every four months, and every two to four weeks, respectively. For haemoglobin H illness or beta thalassemia intermedia, transfusions could be occasionally necessary (for example, during times of infection).
The process of iron chelation includes removing extra iron from your body. Iron overload is a risk associated with blood transfusions. Organs may be harmed by too much iron. You'll get iron chelation therapy (which you can take as a pill) if you have transfusions frequently.
Folic acid supplements help in the production of healthy blood cells.
The sole method of curing thalassemia is a stem cell and bone marrow transplant from a compatible related donor. Human leukocyte antigens (HLA), which are proteins found on the cell surfaces of both the donor and the recipient, must match in order for a donation to be successful. During the process, a medical professional will infuse bone marrow stem cells from your donor into your circulation. Within a month after the transplant, the cells will begin to produce fresh, healthy blood cells.
Your body can produce more red blood cells with the help of the injection lupatercept, which can be given every three weeks.
The condition of thalassemia is curable. Depending on how moderate or severe your thalassemia is, your symptoms, the types of treatments you'll require, and how frequently you'll need them, will vary. Inquire with your healthcare practitioner about how your condition will determine if you require ongoing treatment.
Agilus Diagnostics, a subsidiary of Fortis Healthcare Limited
