WHAT IS THALASSAEMIA?
(Also known as Mediterranean anemia, or Cooley’s Anemia) is a genetic blood disease. People born with this disease cannot make normal hemoglobin (anemia) which is needed to produce healthy red blood cells.
WHO CARRIES THALASSAEMIA?
People of Chinese, South Asian, Middle Eastern, Mediterranean or African origin.
WHAT IS THALASSAEMIA MINOR?
People with a thalassaemia mutation only in one gene are known as carriers or are said to have thalassaemia minor. Thalassaemia minor results in no anemia or very slight anemia. People who are carriers do not require blood transfusion or iron therapy, unless proven to be iron deficient.
WHAT IS THALASSAEMIA MAJOR?
Children born with thalassaemia major usually develop the symptoms of severe anemia within the first year of life. Lacking the ability to produce normal adult hemoglobin, children with thalassaemia major are chronically fatigued, fail to thrive, and do not grow normally.Prolonged anemia will cause bone deformities and eventually will lead to death within the first decade of life. The only treatment to combat severe anemia is regular blood transfusions.
HOW CAN THALASSAEMIA BE TREATED?
Regular blood transfusions allow patients with thalassaemia to grow normally and be active. Unfortunately, transfusions result in deadly accumulation of iron in the heart and liver. If the excess iron is not removed then the patients may suffer from a premature death due to iron overload.
Nowadays, drugs designed to remove excess iron (iron chelators) have significantly changed the prognosis of thalassaemia. Patients can grow and develop normally, with relatively normal heart and liver functions. Patients are living longer and having families of their own. Medical advances continue and promise to improve the life expectancy and quality of life further for those living with thalassaemia.
Current treatments allow thalassaemia patients to live relatively normal lives; however, a cure remains to be found. The genetic cause of thalassaemia was one of the first genes discovered in the 1970′s, yet 30 years later, gene therapy still eludes thalassaemia patients.
DO YOU CARRY THALASSAEMIA?
Many people from the areas of the world where thalassaemia is common carry the gene for it on one chromosome (that is, they have thalassaemia minor). You may believe that your blood has been tested for this specific gene but testing for thalassaemia requires a special blood test. To be tested your doctor must order a blood test called HEMOGLOBIN ELECTROPHORESIS which can identify a carrier of thalassaemia.
If you, your parents or ancestors are from an area of the world where thalassaemia is common, PLEASE REQUEST haemoglobin electrophoresis blood test from your doctor.
It is important to identify yourself as a possible carrier of thalassaemia (thalassaemia minor). A person with thalassaemia minor has a 25%(1 in 4) chance of having a baby with thalassaemia major if his/her mate also has thalassaemia minor.
HOW DO YOU INHERIT THALASSAEMIA?
If both parents carry thalassemia minor, their children may have thalassemia minor, or they may have completely normal blood, or they may have thalassemia major. In each pregnancy there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassaemia minor or a one in four (25%) chance that the child will have thalassaemia major.
HOW CAN WE PREVENT THALASSAEMIA?
Please share the information on this website with others. Show it to your family, friends, neighbors, co-workers or anyone who has origins from areas where thalassemia is common. Be sure to ask your doctor to test you for thalassemia minor. Increased awareness is the key, please do your part by spreading the word.