Live Life Team
Thalassaemia is the inability of the body to produce red blood cells, caused due to certain blood malfunctions that are hereditary. The red blood cells contain the protein haemoglobin, which is very essential as it carries oxygen from the lungs to the entire body. Therefore this condition can cause damage to the brain, organs, heart failure and even death.
The 2 kinds of thalassaemia are: Alpha thalassaemia – produced by 4 different genes; and the Beta thalassaemia – this can be mild or severe, and the severe cases will need to have blood transfusions their entire lives.
Symptoms of Thalassaemia
Babies will display this condition only after 6 months of birth because that is when they start developing haemoglobin. The most general symptoms of this condition are: weakness & fatigue, breathing slowness, skin colouration becoming yellowish. If children have the Beta thalassaemia, the symptoms also include a skeletal dis-formation, due to the body making up for the lack of haemoglobin. Children with this condition do not generally survive for more than about 4 to 5 years, as heart failures or various infections lead to death.
Beta thalassaemia makes the body take in larger amounts of iron to balance the loss of haemoglobin, leading to iron excess in the body. This can cause damages to the tissues, and more importantly to the spleen and the liver.
Causes of Thalassaemia
Thalassaemia occurs mainly as a hereditary condition. The genes received from the parents contain 2 sets, and if even one of them has the mutated thalassaemia gene, the offspring has high chances of contracting it. The chances are outlined as follows: 25% that the child will receive none of the mutated genes; 50% that the child will receive at least one, giving it the thalassaemia trait but not necessary the condition; and 25% that the child receives both the genes, making it a guarantee of having the condition.
The Beta thalassaemia condition can occur in cases where both of the genes that produce the beta mutations are imbibed by the child. Such conditions need life-long blood transfusions.
Diagnosing thalassaemia
Blood tests are the easiest way of determining the existence of this condition, and in some cases, DNA testing becomes necessary. In pregnant women who have the trait, an antenatal screening is performed in order to give the parents the necessary risks involved, so that they can make an informed decision about whether to have the child or not. These tests are very essential in cases where both parents have the thalassaemia trait.
Treating thalassaemia
For Beta thalassaemia, a life-long blood transfusion system is required to keep the patient surviving.
Some other forms of treatments are as follows: Blood Transfusions, chelation therapy, bone marrow transplant replacing the affected marrow, cord blood transplant in the foetus of a pregnant woman, folic acid supplements for Beta thalassaemia intermediate.
Complications of thalassaemia
The most common types of complications that can occur are:
Enlarged Spleen or hypersplenism – the spleen becoming over-active;
Hormone system or endocrine complications – pituitary gland infections;
Heart complications – like irregular heart-beats or failure;
Liver complications – due to iron overload;
Bone complications – expansion in bone marrow leading to expansion of the bones itself.
