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How does it feel to discover that your child suffers from thalassemia?

How does it feel to discover that your child will need intravenous medication 12 hours every day for the rest of his waking life?

What would you do if you learnt that he would need a blood transfusion once every three weeks for the rest of his life?... 

About Thalassemia

Thalassemia is a devastating disease that includes a number of different forms of anemia (red blood cell deficiency), including thalassemia major or Cooley’s anemia. The two main types are called alpha and beta thalassemia, depending on which part of an oxygen-carrying protein (called hemoglobin) is lacking in the red blood cells.

About 150,000 babies worldwide are born with severe forms of the disease each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African ancestry. Recent publications indicate that, with modern supportive therapy, 32 percent of patients with thalassemia major will die by the age of 35.

Thalassemia is a genetic blood disorder that affects a person's ability to produce hemoglobin. Hemoglobin is the protein in our red blood cells (RBC) that carries oxygen and nutrients to all parts of the body. Without it, the body loses its ability to survive. The people we are concerned with are beta thalassemia minors and beta thalassemia majors. A person with thalassemia minor will experience no significant health problems, except a possible mild anemia, which cannot be corrected with iron supplements. Thalassemia major is a serious disease, which requires regular blood transfusions and lifelong medical care.

How does one get Thalassemia?

Thalassemia is an inherited disorder. When two thalassemia minors have a child, there is a 1 in 4 risk (25%) that the child will be a beta thalassemia major (the severe form of thalassemia, where both pairs of genes are defective). This results in severe anemia anytime after 3 months of age.

It is not contagious and does not develop later in life, nor can a child outgrow it. Both parents must have the thalassemia trait in order to pass the disease on to their child.

How can you prevent this?

55% of thalassemic cases are the result of intermarriage among close relatives. As it is difficult to shake off tradition, the next best thing to do would be to be aware of the risks if you are a thalassemia carrier. The UAE government has made a pre-nuptial checkup mandatory to test national couples for diseases like Thalassemia.

Today, it is possible to precisely diagnose before three months of pregnancy (between 9 and 11 weeks), whether the fetus is normal, is a carrier (thalassemia minor) or has the disease (thalassemia major). The parents then have the option of terminating the pregnancy if the fetus is diagnosed as a beta thalassemia major.

To Be tested, your doctor must order a blood test called "HEMOGLOBIN ELECTROPHORESIS", which can identify a carrier of thalassemia.

How is Thalassemia treated?

A person who has thalassemia major cannot produce enough hemoglobin to survive, and therefore needs blood transfusions every three weeks in order to grow and live normally. This, however, leads to an iron overload, which is removed by taking a nightly infusion of a medicine called Desferal.

 Iron chelation is the only effective therapy for removing excess iron from the heart. Until recently, the only chelator available was Desferal, a drug that must be injected under the skin for 8-12 hours, for 5-7 nights per week. Ferriprox, the first iron chelator which can be given by mouth, is currently approved in 48 countries, including the European Union, for the treatment of iron overload in patients with thalassemia major for whom deferoxamine therapy is contra-indicated or who present serious toxicity with deferoxamine therapy. Ferriprox has not been approved for use in Canada

Iron overload and iron chelation

Iron overload is a cumulative, potentially life-threatening, unavoidable consequence of chronic blood transfusions used to treat certain types of rare chronic blood disorders, including thalassemia and sickle cell disease, as well as other rare anemia and myelodysplastic syndromes. Signs of iron overload may be detected after transfusion of about 20 units of blood. In many patients the need for transfusions may be life-long. If left undiagnosed or untreated, the excess iron in the body is likely to lead to damage to the liver, heart and endocrine glands.
The body has no inherent mechanism to remove excess iron, so iron chelation is used as an effective treatment for transfusion related iron overload. In iron chelation, an agent binds to iron in the body and tissues and helps remove it through the urine and/or faces.

What happens if a Thalassemic stops his medication?

"They die early." Before this, children never lived beyond 20 years,” But now, the life spam for thalassemia major, range from 25 to 50 years-old

Is there a permanent cure to Thalassemia?

Yes, at present a bone marrow transplant is the cure for thalassemia.

Why Prevention

 "The hemoglobin disorders are the most common clinically serious single gene disorders in the world. It is estimated that over 300,000 affected children are born each year, most with sickle cell disease and with ß-thalassemia major. Most affected children are born in countries with limited resources, where priority tends to be given to tacking high rates of infant and child mortality from infections and malnutrition. As a result, hereditary disorders receive little attention and affected children do not receive the treatment they need, dying in childhood.

The hemoglobin disorders in particular are often regarded as incurable and therefore "hopeless", and they are expensive to treat. Thalassemia patients may be left untreated (indeed, they often die without a diagnosis) or grossly under-treated. At the same time, quality of treatment is firmly linked to both survival rates and quality of life.

Online Links to  Thalassemia Associations World Wide

2007: July / June / May / April / March / February / January / 2006: December / November / October /  All months together

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