A collection of genetic diseases that affect the protein haemoglobin in the blood are collectively referred to as thalassaemia.
Haemoglobin, which is required by red blood cells to transport oxygen throughout the body, is either not produced at all or insufficiently in thalassaemic individuals. They may become quite anaemic as a result, feeling weak, exhausted, and pale. People of Mediterranean, South Asian, Southeast Asian, and Middle Eastern descent are primarily affected.
halassaemia comes in a variety of forms, which can be further broken down into alpha and beta thalassaemias. The most serious form is beta thalassemia major.
Beta thalassaemia intermedia, alpha thalassaemia major, and haemoglobin H illness are further kinds.
It is also possible to have the thalassaemia trait, commonly referred to as being a “carrier” of thalassaemia.
You won’t often experience any health issues if you have beta thalassaemia, but you run the risk of passing it on to your offspring.
The majority of newborns with thalassaemia start having health issues a few months after birth.
Less severe cases could go undetected until later in childhood or even adulthood.
The primary medical issues linked to thalassemia are:
Pale complexion and hammering, fluttering, or irregular heartbeats (palpitations) are symptoms of anaemia, which is caused by a shortage of haemoglobin.
By altering the production of haemoglobin, defective genes lead to thalassaemia.
Only when these defective genes are inherited from both parents can a child be born with thalassaemia.
For instance, there is a 1 in 4 risk that each kid they have will be born with the disorder if both parents carry the defective gene that causes beta thalassaemia major.
Typically, carriers are the parents of a thalassemic child. They only have 1 of the defective genes, according to this.
Throughout their lifetimes, people with thalassemia major or other severe kinds will require specialised care.
The primary therapies are: Regular blood transfusions are used to treat and prevent anaemia; in severe cases, roughly once a month is required.
Chelation therapy is a medical procedure used to treat persons with thalassemia who accumulate too much iron in their bodies due to frequent blood transfusions; this condition necessitates medical attention.