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Thalassaemia - Thalassaemia symptom, treatment, causes

Thalassaemia is a disease in which a group of inherited blood disorders in which there isa defect in the production of haemoglobin, the oxygen-carrying pigment in red blood cells. Red bloodcells that contain the defective haemoglobin are abnormally small and fragile and are rapidly broken down in the circulation, resulting in ANAEMIA. Thalassaemias are among the most common inherited disorders in humans, occurring mostly in people of Mediterranean, North African or South-East Asian ancestry. There are two main forms of the disease.

Thalassaemia major (Cooley's anaemia) occurs if the genes responsible for the disease are inhereted from both parents. Symptoms of severe haemolytic anaemia appear early in life and include tiredness and weakness, shortness of breath, jaundice, enlargement of the spleen and impaired growth. Overactivity in the bone marrow (an attempt to compensate for the anaemia) leads to thickening and deformity of the skull and face bones, and an increased tendency of long bones to fracture. The only treatment is by carefully controlled blood transfusions.

Thalassaemia is an Disordered inherited disease of the red blood cells classified as a hemoglobinopathy in which there is an abnormality in one or more of the globin genes. Thalassaemia is passed from parent to child and is the most common inherited blood disorder in the world. Thalassaemia can affect anyone of any nationality, but it is particularly prevalent in people with ancestry from Mediterranean countries and across a broad region extending through India, the Middle East and South East Asia. Thalassaemia is usually diagnosed within the first six months of life and can be fatal in early childhood without ongoing treatment. There are two different types of thalassaemia, alpha ( a ) and beta ( b ), with the most common being b -thalassaemia.

Thalassaemia is a genetic blood disorder whereby the red blood cells are unable to carry a sufficient supply of oxygen for the body. Beta thalassaemia occurs when a person has inherited a gene where they are unable to make enough of the chemical needed for making enough haemoglobin. Beta thalassaemia is just one out of 600 genetic conditions affecting haemoglobin in humans. The word 'thalassaemia' originates from the Greek word 'thalasa' which means the sea. In Asia more than 150 million people have the thalassaemia trait. These people are thalassaemia carriers. Many of them do not realize this as it does not cause them any illness. It can only be discovered through specific blood tests done by a doctor. As the general public is still largely ignorant of existence of thalassaemia, it is one of our objectives to spread information of this potentially fatal blood disorder. If a person has the thalassaemia trait, many of his or her relatives may also have it. If you know of someone who has the trait, kindly advise their famiy members to go for blood test as well.

Causes of Thalassaemia

The common Causes of Thalassaemia :

• The clinical severity of thalassemia varies tremendously depending on the exact nature of the genes that a person inherits .
• The cells of the body contain information, in the form of genes, for the body to make all the necessary structural components and chemicals to ensure normal function.
• The genes received from one's parents before birth determine whether a person will have thalassemia.
• The anaemia develops during the first few years of life and frequent blood transfusions must be given to maintain the life of a person who has this type of thalassaemia.

Symptoms of Thalassaemia

Some common Symptoms of Thalassaemia :

• Poor appetite.
• Sleep difficulties.
• Paleness.
• Shortness of breathe
• Failure to grow and thrive.
• Fatigue, lack of energy.

Treatment of Thalassaemia

• Iron chelators can be used to remove excess iron from the blood.
• Oral iron chelators (tablets) may be prescribed where the infusion treatment is unsuitable or ineffective.
• Halassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency.
• The most common treatment for all major forms of thalassemia is red blood cell transfusions.
• Alpha or beta thalassaemia minor (or trait) are mild types of thalassaemia, which have no effect on good health and need no treatment.
• Thalassemia Intermedia patients vary a lot in their treatment needs depending on the severity of their anemia.
• Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body.