Overview
Thalassaemias are inherited blood disorders which cause the body to make fewer healthy red blood cells and less haemoglobin (an iron-rich protein in red blood cells).
The two major types of thalassaemia are alpha- and beta thalassaemia. The most severe form of alpha thalassaemia is known as alpha thalassaemia major or hydrops fetalis, while the severe form of beta thalassaemia is known as thalassaemia major or Cooley’s anaemia.
Thalassaemias affect both males and females and occur most often in people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms are usually diagnosed in early childhood and are lifelong conditions.
Causes
Haemoglobin in red blood cells has two kinds of protein chains: alpha globin and beta globin. If your body doesn’t make enough of these protein chains, red blood cells don’t form properly and can’t carry enough oxygen.
Genes control how the body makes haemoglobin protein chains. When these genes are missing or altered, thalassaemias occur.
Thalassaemias are inherited disorders – they are passed on from parents to their children through genes. People who get abnormal haemoglobin genes from one parent but normal genes from the other are carriers. Carriers often have no signs of illness other than mild anaemia. However, they can pass the abnormal genes on to their children.
Signs and symptoms
Symptoms of thalassaemias are caused by a lack of oxygen in the blood stream. This occurs because the body doesn’t make enough healthy red blood cells and haemoglobin. The severity of symptoms depends on the severity of the disorder:
- People who have alpha or beta thalassaemia can have mild anaemia, which can make you feel tired.
- People with beta thalassaemia intermedia have mild to moderate anaemia. They may also have other health problems including: slowed growth and delayed puberty; bone problems; and an enlarged spleen.
- People with haemoglobin H disease or beta thalassaemia major have severe thalassaemia. Symptoms occur within the first two years of life and include severe anaemia and other serious health problems
- Pale and listless appearance
- Poor appetite
- Dark urine
- Slowed growth and delayed puberty
- Jaundice
- Enlarged spleen, liver and heart
- Bone problems
Treatment
Treatment for thalassaemias depends on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassaemia need little or no treatment.
Three standard treatments are used to treat moderate and severe forms of thalassaemia, these include blood transfusions, iron chelation therapy, and folic acid supplements.
Risk
Family history and ancestry are the two risk factors for thalassaemias.