Anemia These drugs include epoetin Alfa (Procrit, Epogen, and Eprex) and darbepoetin Alfa (Aranesp).... The two major forms are thalassemia minor and thalassemia major (Cooley's anemia, beta thalassemia).....

What Is Thalassemia?

(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 Thalassemia?

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

What is Thalassemia Minor?

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.

What is Thalassemia Major?

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 fatiqued

- 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 Thalassemia be treated?

Regular blood transfusions allow patients with thalassemia major to grow normally and be active. Unfortunately, transfusions result in deadly accumulation of iron in the hearts and livers of patients by their teenage years. 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 major. Patients can grow and develop normally, with relatively normal heart and liver functions. Adult patients are living into their forties and some have children of their own.

Despite improved prognosis, many patients find the nightly 10 hour infusions difficult or painful and are reluctant to comply with their doctor's orders. These patients are not free of risk and may die prematurely due to iron overload.

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, yet 30 years later, gene therapy still eludes thalassemia patients.

Do you carry Thalassemia?

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. http://www.thalassemia.ca/viewarticle.asp?aID=31&searchQ=F.A.Q

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