Thursday, October 27, 2011

So, What is Beta Thalassemia Anyway?

Thalassemia is the name of a group of genetic blood disorders.  There are 2 types, Alpha & Beta Thalassemia.  Rather than provide a heavy description of both, I'll provide a quick breakdown on Beta, since that is what my experience focuses on.  Please check out Cooleys Anemia on a full description.  The following excerpt has been copied directly from their site.

"People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

There are three types of beta thalassemia that also range from mild to severe in their effect on the body.

Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.

Thalassemia Intermedia. In this condition the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the amount of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.

Thalassemia Major or Cooley's Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.

Treatment of Thalassemia

Blood Transfusions
The most common treatment for all major forms of thalassemia is red blood cell transfusions. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.

While thalassemia patients were given infrequent transfusions in the past, clinical research led to a more frequent program of regular blood cell transfusions that has greatly improved the patients' quality of life.

Today, most patients with a major form of thalassemia receive red blood cell transfusions every two to three weeks, amounting to as much as 52 pints of blood a year.

Iron Overload
Because there is no natural way for the body to eliminate iron, the iron in the transfused blood cells builds up in a condition known as "iron overload" and becomes toxic to tissues and organs, particularly the liver and heart. Iron overload typically results in the patient's early death from organ failure.

Chelation Therapy
To help remove excess iron, patients undergo "iron chelation therapy," in which a drug is introduce dinto the body which binds with excess iron and removes it through the urine or stool. For many years, the only FDA approved iron chelator was Desferal, which has to be administered through a painful and difficult infusion process. When using Desferal, a needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours.

In November 2005, the FDA approved an oral chelator, Exjade. This is a pill which is dissolved in water or juice and drunk, once a day. Many patients now have an option in terms of chelators, and it is hoped that more options will become available in the coming years.

The Compliance Problem
Compliance with chelation therapy is vital to the thalassemia patient's long term survival. However, many
patients find the administration of Desferal so difficult that they do not keep up with it or abandon treatment
altogether. If they do not have access to another chelating option, this is extremely dangerous. Lack of
compliance with chelation therapy leads to accelerated health problems and early death."

So, how does someone end up with Beta Thal Major? Basically like this:

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