Living with thalassemia
Thalassemia is a group of genetically caused blood disorders. It is caused due to lack of body’s capacity to produce alpha or beta components of our haemoglobin, due to faulty genes. Following are the types of thalassemia:
People whose haemoglobin does not produce enough alpha protein have alpha thalassemia. There are four type of alpha thalassemia that range from mild to severe in their effect on the body.
Silent Carrier State
This condition generally causes no health problems because the lack of alpha protein is so small that the haemoglobin functions normally. It is called silent carrier and is diagnosed by deduction when an apparently normal individual has a child with haemoglobin H disease or alpha thalassemia trait.
Haemoglobin Constant Spring
This is an unusual form of Silent Carrier state, caused by a mutation of the alpha globin.
It is called Constant Spring after the region of Jamaica in which it was discovered. As in silent carrier state,
an individual with this condition usually experiences no related health problems.
Alpha Thalassemia Trait
Here, the lack of alpha protein is somewhat greater. Patients have smaller red blood cells and a mild anemia, although many patients do not experience symptoms. However, physicians often mistake mild alpha thalassemia for iron deficiency anemia.
Haemoglobin H Disease
The lack of alpha protein is great enough to cause anemia and serious health problems such as an enlarged spleen, bone deformities, and fatigue. It is named for the abnormal haemoglobin H (created by the remaining beta globin) that destroys red blood cells.
Haemoglobin H Constant Spring
More serious than haemoglobin H disease, patients tend to have a more severe anaemia and suffer more frequently from enlargement of the spleen and viral infections.
Homozygous Constant Spring
This condition is a variation of haemoglobin H-Constant Spring that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to haemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a carrier of alpha thalassemia traits).
Hydrops Fetalis or Alpha Thalassemia Major
Because of no alpha genes in the individuals DNA the gamma globins produced by the foetus form an abnormal haemoglobin called haemoglobin Barts. Most individuals with this condition die before or shortly after birth.
This is found in people whose haemoglobin does not produce enough Beta protein. Following are its three types:
Thalassemia Minor or Thalassemia Trait
There is a slight lack of beta protein so a person simply carries the genetic trait for thalassemia
and will usually experience no health problems other than a possible mild anaemia.
This is a moderately severe anaemia and significant health problems, including bone deformities and enlargement of the spleen. However, thalassemia intermedia and thalassemia major are different as the deciding factor is the amount of blood transfusions required by the patient. The more dependent the
patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major.
Thalassemia Major or Cooley’s Anaemia
This is the most severe form of beta thalassemia, width a complete lack of beta protein in the
haemoglobin. It causes a life-threatening anaemia that requires regular blood transfusions and extensive
ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which
must be treated with chelation therapy to prevent early death from organ failure.
Treatment of Thalassemia
Red blood cell transfusions are necessary to provide the patient with a temporary supply of healthy red
blood cells with normal haemoglobin capable of carrying the oxygen that the patient’s body needs
Iron in the transfused blood cells builds up in a condition is known as “iron overload” and becomes toxic to tissues and organs, particularly the liver and heart. Iron overload typically results in the patient’s early death from organ failure.
To help remove excess iron, patients undergo the difficult and painful infusion of a drug. Desferal,
A needle is attached to a small battery operated infusion pump and worn under the skin of the
stomach or legs five to seven times a week for up to twelve hours. Desferal binds iron in a process
called ‘chelation.’ Chelated iron is later eliminated. reducing the amount of stored iron.
The Compliance Problem:
Many patients find ‘chelation’ so difficult that they do not keep up with it or abandon treatment
altogether. This leads to accelerated health problems and early death.