In most cases, patients become aware of their conditions only after having gone through blood examinations or upon the birth of a child. This is the form of homozygus or complete inheritance, and is usually a severe disorder, through the degree of severity varies widely. Sufferers usually develop anaemia by the third month after birth, with enlargement of liver and spleen and followed by bone deformities and retardation of growth. The anaemia progressively becomes worse, prompting the need for regular blood transfusions. This causes excessive iron deposition in body tissues and subsequently caises damage to the heart , liver and other organs.
Death frequently occurs during adolescence.
As symptoms are not apparent in most thalassaemia patients other than those with thalassaemia major, diagnosis is only through blood tests. Examination of the red blood cells can reveal certain abnormalities that indicate the presence of this disorder. The diagnosis is confirmed by a test called Haemoglobin Electrophoresis . However, Thalassaemia major sufferers often require regular blood transfusions to survive. This may cause an overload of iron in the body to toxic level, making chelation therapy to reduce absorption of iron necessary.