Health A to Z Last updated on 2021-02-26 20:49:26
8 Facts About Thalassemia, A Genetic Disorder
- Dr. Sreelekha Daruvuri
- 2 Min Read
Thalassemia is a genetic disorder that affects the body’s capability to produce haemoglobin and red blood cells. A patient with thalassemia has too few RBCs and haemoglobin and the size of RBCs might be too small. It can range from a mild condition to a life-threatening disorder.
Symptoms of thalassemia
- Pale skin and jaundice
- Feeling tired and drowsy
- Coldness in hands and feet
- Shortness of breath
- Rapid heart rate
- Dark coloured urine
- Delayed growth in children
Some facts on thalassemiaLet’s look at some of the facts about thalassemia to understand this condition better-
- This condition is common in people from Asian, South Asian, Mediterranean, Middle Eastern, and Caribbean regions.
- There are two types of thalassemia- Alpha and beta, corresponding to the two types of protein chains that make up the haemoglobin (alpha-chain and beta-chain).
- The severity of thalassemia depends on the number of genes that are abnormal or mutated. In Alpha-thalassemia, if 3 to 4 genes are mutated, then it is extremely severe. In beta-thalassemia, if 2 genes are mutated then it is also a severe form of this condition.
- If both the parents carry the thalassemia gene, then they have a 1 in 4 chance of giving birth to a child with a serious form of this disease.
- When serious, children with thalassemia must undergo blood transfusions at least twice a week to maintain optimum health. However, too frequent transfusions cause an excessive build-up of iron in the transfused RBCs making it toxic to the liver and other organs.
- In order to combat this excessive build-up of iron, a special drug called Deferoxamine must be administered, which usually takes up to 12 hours. Deferoxamine helps in binding the iron together via a process known as chelation.
- There is research underway for better chelation therapies that would require it to be performed less number of times or can be taken orally.
- While chelation therapy has successfully increased the lifespan of patients, it has also led to other secondary problems such as heart disease, hepatitis, liver cancer, fertility issues and osteoporosis.
Consult a General Physician
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