Thalassemia – An Inherited Blood Disorder

Thalassemia is an inherited blood disorder which tends to be passed down through families where the body makes an abnormal form of haemoglobin, the protein in red blood cells which carries oxygen and this disorder could lead to great destruction of red blood cells resulting in anaemia.

Anaemia on the other hand is a disorder wherein the body does not have sufficient normal, healthy red blood cells –RBC. Red blood cells are important since they contain substance known as haemoglobin which carries the oxygen from the lungs to the various areas of the body which is produced in the marrow of the bone,(a spongy substance found within the larger bones), from the iron which the body obtains from the food consumed.

In the case of thalassemia the production of haemoglobin is low leading to anaemia with a reduced oxygen carrying content. If the body does not receive sufficient amount of oxygen one may tend to feel tired, breathless, faint and drowsy.

Alpha/Beta Thalassemia

This disorder could be inherited from one of the parents who could be the carrier of the disease and is caused by either a genetic mutation or a deletion of some key genes. Thalassemia often occurs among people of Greek, Italian, Middle Eastern, Southern and African descent.

The two kinds of thalassemia are alpha thalassemia and beta thalassemia. In the case of alpha thalassemia, one of the alpha globin genes has a mutation or an abnormality while in the case of beta thalassemia; the beta globin genes are affected.

Thalassemia could be severe or mild and some people may not show any symptoms or mild anemia. The severe type in the United States is known as Cooley’s anemia which tends to appear during the first two years of life and the person may have severe anemia with slowed growth, delayed puberty and problems with the liver, heart, spleen or bones.

Blood Transfusion/Bone Marrow Transplant/Cord Blood Transplant

If the person is not given timely treatment, there could be serious types of thalassemia leading to complication which could include organ damage, heart failure and even death. Thalassemia can be diagnosed through blood test.

DNA tests could also be needed to identify the exact type of thalassemia. A questionnaire about the family origin is also done as an initial screening to check the risk of this disorder. Treatment includes blood transfusion and other options to remove excess iron from the body. If there are not symptoms or the symptoms are mild, the need for any treatment is not essential.

However in severe cases, a bone marrow transplant is done which is the only known cure for thalassemia and cord blood transplantation wherein the blood cells are used from the umbilical cord of a new-born baby with the consent of the parent, though the procedure could cause a range of complications and may not be suitable for all.

Some of the problems faced with BTM are that the person may need frequent blood transfusions which may result in a build-up of iron in the body causing serious health issues. People who tend to receive regular blood transfusion for BTM should consider iron chelation therapy which helps in removing the excess iron from the body.