Thalassemia can be categorized in two different ways. One classification is based upon the part of the hemoglobin that is affected- alpha or beta; while the other is based upon the severity of the thalassemia.
The alpha part of the hemoglobin is made up of four genes-two from each parent. Defect in one or more than one gene can cause the disease. The condition is then classified into different types. Let us have a look at them.
1 mutated gene-
Results in a silent carrier form of the disease
This type does not show any symptoms usually
This type is also known as alpha thalassemia minima
2 mutated genes-
Results in trait form of the disease
Symptoms are mild
This type is also known as alpha thalassemia minor
3 mutated genes-
This results in hemoglobin H type of the disease
The symptoms in this type are moderate
This type is also known as hemoglobin H disease.
4 mutated genes-
This is a rare form of the disease
This results in major form of the disease
The symptoms of this type are usually very severe and fatal
This is also known as Hydrops fetalis with hemoglobin Barts
The beta part of the hemoglobin is made up of two genes- one from each parent. Defect in one or more than one gene can be responsible for causing the disease. They are then classified accordingly. Let us have a look at the different types of beta thalassemia.
1 mutated gene-
This results in a mild form of the disease
The symptoms are usually mild
This type is also known as the thalassemia minor or beta-thalassemia
2 mutated genes-
This results in moderate to severe form of the disease
The symptoms are usually moderate to severe
This type is also known as thalassemia major or Cooley anemia
Thalassemia intermedia, a milder form can also be seen as a result of 2 mutated genes.
Thalassemia is a genetic blood disorder. In this condition, the body produces very few healthy red blood cells and hence there is a shortage of hemoglobin. As a result, the body cells do not get enough oxygen and as a result, the affected person may suffer from anemia and severe fatigue. Also, due to a less oxygen supply, the organs get damaged or cannot function properly, resulting in organ dysfunction.
Thalassemia is a type of blood disorder. Blood disorders can affect any of the three major components of blood-
- Red blood cells
- White blood cells
- Blood disorders can also affect plasma of the blood. Plasma is the liquid part of the blood.
- Thalassemia is a blood disorder that affects the red blood cells in the blood.
Signs And Symptoms Of Thalassemia
RBCs perform an important function of carrying oxygen to all the cells in our body. The cells use this oxygen as food to function properly. If there won’t be enough RBCs in the body, there also won’t be proper oxygen supply to the cells in our body. This may cause various symptoms like tiredness, breathlessness, fatigue in the body. This condition is known as anemia. Those suffering from thalassemia may get anemia which can be mild or severe in nature. Severe anemia can damage the organs, cause organ failure or even lead to death.
Signs and symptoms of thalassemia-
- Tiredness or fatigue
- Yellowish and pale skin and eyes
- Slow growth
- Dark colored urine
- Bone deformities especially of the face
The signs and symptoms of thalassemia vary according to the type of the disease. Some types present with mild symptoms while other types present with more severe symptoms.
Thalassemia is a genetic blood disorder which cannot be cured. It cannot be prevented either. However, with a prompt diagnosis and an efficient treatment, the persons suffering from thalassemia can lead a fairly normal life, with an almost normal life expectancy.