Thalassemia^^

FAQ on Thalassemia

Thalassemia describes a group of blood disorders that is caused 
by changes to the genes that control the production of oxygen-carrying
 molecules (haemoglobins) in red blood cells.

What happens when you 
have thalassemia?


People whose genes are affected by these changes
 may produce less haemoglobin or haemoglobin that are 
less efficient in carrying oxygen. Their red blood cells tend
 to get destroyed faster too.


When that happens, they do not have enough haemoglobin
 or red blood cells (anaemia) to carry oxygen around in their
 body, and they may appear pale and feel fatigued.


The type of thalassemia one has depends on the defective
 gene a person inherits. The two major types of thalassaemia
 are alpha and beta thalassemia, but some people can 
have delta thalassemia as well.


Is it a common disease?


While thalassemia is found in almost every country worldwide
, it is more commonly found in Mediterraneans and Asians.


According to the data from the National Thalassemia Registry,
 currently there are 4,768 thalassemia patients registered in
 Malaysia. Although some may have mild disease and are not
 detected or recorded by the registry, among the recorded
 cases, 2,800 patients require regular blood transfusion.


What are the common signs and 
symptoms?


According to mayoclinic.com, the signs and symptoms
 include fatigue, weakness, shortness of breath, 
pale appearance and a protruding abdomen.


The severity of symptoms depends on the type of the 
disease. Those with thalassemia major are people who
 have severe symptoms of thalassemia, while those 
with thalassemia intermedia have moderate symptoms.


People who have thalassemia minor are people who carry
 the changes in their genes (carriers), but are healthy and
 have mild or no symptoms.


The symptoms of thalassemia major start very young,
 usually at the age of 6 months, although the severe 
ones could start earlier.


For thalassemia major, diagnosis is usually made in the
 first year of life.


The child may have poor feeding and poor growth. The 
parents may notice that the child is pale and that the
 abdomen is distended due to an enlarged spleen
 and/or liver.


Are there many thalassemia
 carriers around?


Based on the many screening studies conducted (
including those by the Ministry of Health), the carrier
rate averages at about 5%, which means about one
 in 20 Malaysians carry the thalassemia gene.


Thalassemia carriers should not be worried or stigmatised
 by their carrier status. However, they need to be aware
 of the risks involved when they have children with another
 thalassemia carrier. For instance, when both parents are
 beta thalassemia carriers, there is a 25% chance their 
child will have thalassemia.


How is it diagnosed?


Thalassemia is diagnosed by a series of blood tests
. The first blood test evaluates the quality, shape and 
size of a person's red blood cells. If they are not normal,
 further tests, including tests to evaluate the haemoglobin
 and DNA, will be performed to diagnose the disease.


Is it treatable or curable?


Not all thalassemia patients need treatment, but 
those who do can be treated with regular blood 
transfusions. This way, patients will have enough 
healthy red blood cells that can carry enough 
oxygen to all parts of the body.


However, regular transfusions can cause iron to 
accumulate in the patient's body. Therefore, they need treatment
 to remove excess iron from their bodies as well.


While thalassemia can be cured with bone marrow transplantation 
(BMT), it is not available to many thalassemia patients due to
 difficulties in finding a compatible donor.