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Thalassemia


Thalassemia is a blood disorder that causes your body to have less haemoglobin than normal. As a result, thalassemia can cause anaemia and will leave the patient feeling fatigued. 

Thalassemia is caused by mutations in the DNA of the cells that make haemoglobin. In thalassemia, either the alpha or the beta chains are reduced, resulting in alpha-thalassemia or beta-thalassemia respectively. 


The alleles for the thalassemia are recessive. Hence, many carriers do not realise that they carry the allele. Four genes are involved in making the alpha haemoglobin chain. The greater the amount of mutated genes, the greater the severity of the disease. Two genes are involved in making the beta haemoglobin chain. Likewise, having two mutated genes will result in thalassemia major, a more severe form of the disease. 


Family history of thalassemia increases the risk of a patient having the disease, as the disease is hereditary. Thalassemia most often occurs in African Americans as well as those of Southeast Asian descent. In Singapore, about 3% of the population are carriers of the thalassemia gene.


Sources:

https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

https://www.healthhub.sg/live-healthy/952/pregnancy-thalassemia-tests

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