FAQs

The term thalassemia is derived from the Greek, thalassa (sea) and haima (blood). Beta-thalassemia includes three main forms: Thalassemia Major variably referred to as “Cooley’s Anemia” and “Mediterranean Anemia”, Thalassemia Intermedia and Thalassemia Minor also called “beta-thalassemia carrier”, “beta-thalassemia trait” or “heterozygous beta-thalassemia”.

People of Chinese, South Asian, Middle Eastern, Mediterranean or African origin.

People with a thalassemia mutation only in one gene are known as carriers or are said to have thalassemia minor. Thalassemia 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.

Children born with thalassemia major usually develop the symptons of severe anemia within the first year of life. Lacking the ability to produce normal adult hemoglobin, children with thalassemia 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.

Regular blood transfusions allow patients with thalassemia 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 thalassemia. 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 thalassemia.

Current treatments allow thalassemia patients to live relatively normal lives, however, a cure remains to be found. The genetic cause of thalassemia was one of the first genes discovered in the 1970’s; gene therapy still eludes thalassemia patients.

Many people from the areas of the world where thalassemia is common carry the gene for it on one chromosome (that is, they have thalassemia minor). You may believe that your blood has been tested for this specific gene but testing for thalassemia requires a special blood test. To be tested your doctor must order a blood test called HEMOGLOBIN ELECTROPHORESIS which can identify a carrier of thalassemia.

If you, your parents or ancestors are from an area of the world where thalassemia is common, PLEASE REQUEST hemoglobin electrophoresis blood test from your doctor.

It is important to identify yourself as a possible carrier of thalassemia (thalassemia minor). A person with thalassemia minor has a 25 %( 1 in 4) chance of having a baby with thalassemia major if his/her mate also has thalassemia minor.

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 thalassemia minor or a one in four (25%) chance that the child will have thalassemia major.

Please share the information on this website with others. Show it to your family, friends, neighbors, coworkers 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.