What is Thalassemia?
The red colour of blood is due to the presence of haemoglobin. The function of haemoglobin is to carry oxygen to various tissues and organs. The optimum haemoglobin level is 12 to 15.5 gm per deciliter in females and 13.5 to 17.5 gm per deciliter in males.
Thalassemia is an inherited blood condition that involves a lower-than-normal level of haemoglobin.
Patients with thalassemia may suffer from anaemia due to a high rate of RBC destruction. The severity of this condition varies, with patients reporting mild to severe anaemia. Patients diagnosed with moderate thalassemia do not require treatment. Severe thalassemia, on the other hand, requires medical intervention.
There are two types of globin chains present in haemoglobin. These are alpha chains and beta chains. Depending on the anomaly in these globin chains, thalassemia can be categorised into two types.
- Alpha-thalassemia: In this condition, the production of alpha-globin chains drastically decreases. The severity depends upon the number of genes mutated.
Four genes regulate the synthesis of the alpha-globin chain. In the case of one mutated gene inheritance, the patient does not experience any symptoms. Inheritance of two mutated genes results in mild symptoms, while three mutated genes result in severe symptoms.
Inheriting four mutated genes may either result in stillbirth, or if live delivery occurs, the infant could die shortly after birth or require transfusion therapy throughout their life.
- Beta-thalassemia: Two genes regulate the synthesis of the beta-globin chain. If the patient inherits one mutated gene, the condition is known as thalassemia minor. The patient may show mild symptoms.
However, patients may experience severe symptoms if the patient inherits both genes mutated. This condition is known as thalassemia major.
Symptoms of Thalassemia
The signs and symptoms of thalassemia depend upon the type and degree of mutation. Some patients may show symptoms at the time of their birth, while others start showing them a few years after birth. Some of the common symptoms of thalassemia are:
- Weakness and fatigue due to anaemia
- Pale skin due to low levels of haemoglobin
- Dark-coloured urine
- Delayed bone development and growth
- Facial bone deformities
Causes of Thalassemia
Various genes regulate the formation of haemoglobin. The synthesis of alpha-globin primarily requires four genes. People inherit two genes from their mother and two from their father.
Synthesis of beta-globin requires two genes, one each from their father and mother. Thalassemia occurs if any of the inherited genes are mutated. If both parents have faulty or mutated genes, there is a high risk of developing thalassemia.
Patients with thalassemia may experience several complications. Some of these are:
- Increased risks of infection
- Iron overload resulting in damage to vital organs
- Retarded growth
- Heart problems
- Bone deformities
Diagnosis of Thalassemia
There are various ways to diagnose thalassemia. Some of the methods are:
- Physical examination: The doctor may examine the baby to determine the presence of various symptoms of thalassemia, such as pale skin, facial deformities, or abdominal swelling.
- Blood tests: The doctor may also ask the patient to undergo blood tests. The blood test determines the level of haemoglobin and the number of RBCs.
- DNA analysis: The doctor may also advise undergoing DNA analysis. It helps to determine the presence of mutated genes.
- Fetal examination: The doctor may perform amniocentesis if he suspects that the foetus has thalassemia. Chorionic villi sampling of the mother may also be conducted for this purpose.
Treatment of Thalassemia
Patients with milder forms do not require treatment. Some of the treatment options available for more severely-affected patients are:
- Chelation therapy: Thalassemia may result in iron overload. Chelation therapy involving chelating agents helps in managing this by binding the iron.
- Blood transfusion: In severe cases, the patient may undergo blood transfusions. The frequency of blood transfusion may be around two per week.
- Stem cell transplant: Stem cell transplants involve transplanting healthy bone marrow (where red blood cells are formed) in affected patients. It is an effective treatment in people with severe thalassemia.