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Thalassaemia and rare inherited anaemia

Thalassaemiais the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.

People with thalassaemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. This can make them very anaemic (tired, short of breath and pale). It mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin.

There are different types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease.

It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait. Being a beta thalassaemia carrier will not generally cause you any health problems, but you're at risk of having children with thalassaemia.

Rare inherited anaemias (RIA) are a subset of anaemias caused by a myriad of genetic defects affecting erythropoiesis stages or one red blood cell (RBC) component (Diamond-Blackfan anaemia, congenital dyserythropoietic anaemias, enzyme deficiencies, red cell membrane disorders).

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