This is the face of Thalassemia...

By: Tanja-Tiziana Burdi
Oakwood C.I.
Toronto, Ontario

Over 3 million North Americans are carriers of the genetic trait for Thalassemia, a fatal blood disease. It strikes predominately those of Mediterranean, Middle Eastern or Asian ancestry, and occurs in as many as one in five people of certain Italian and Greek populations.

At the core, Thalassemia is actually a collection of congenital disorders in which parts of the protein chains that make up haemoglobin are changed. Haemoglobin is a crucial compound in our red cells that carries oxygen to our tissues – and carbon dioxide away from them. You may be surprised to know that a condition you've never heard of is one of the most common inherited blood diseases. The two main types of the disease are Thalassemia minor and major. Those born with Thalassemia minor, otherwise known as the Thalassemia trait usually live fairly normal lives, but will most likely pass the trait on to their children. One of four types of alpha Thalassemia and two types of beta thalassemia can be inherited.

Alpha Thalassemia genes are found in Southeast Asians, Africans, and people originally from the Middle East. The first type of Alpha Thalassemia is a carrier state with no anemia and no symptoms; the second produces slightly abnormal red cells but no anemia; the third produces a mild anemia that generally doesn't lead to serious complications; and the fourth results in fetal death.

Beta Thalassemia genes are more widespread – found in the Mediterranean, Africa, the Middle East, India, and Southeast Asia. Someone with only one of the beta genes will have beta Thalassemia trait, a mild anemia in which the red cells are smaller than normal. Because small red cells are also typical of iron deficiency anemia, which is extremely common in women and children, many people with this trait are erroneously diagnosed as iron deficient, and are given iron supplements or injections. Iron not only doesn't help, but it can build up in the tissues causing various complications. The real danger occurs when someone inherits both Beta Thalassemia genes. This results in the development of Thalassemia Major, or Cooley's anemia. About 100,000 babies worldwide are born annually with the severe form of disease. During the first year or two, these children become pale, listless, fussy, and have a poor appetite. Physically they are underdeveloped and cannot keep up with their peers. Without treatment, the spleen, liver, and heart soon become greatly enlarged. Often the spleen has to be removed, even though it plays a major role in fighting infection. Heart failure and infection are the leading causes of death among children with untreated Thalassemia major.

Children with this form of the disease are treated with frequent transfusions (generally every 3 to 4 weeks) to keep their haemoglobin levels near normal. This form of treatment, referred to as "hyper transfusion," enhances the child's growth and well-being, and usually prevents complications. Unfortunately, repeated blood transfusions can lead to a buildup of iron in the body, which can damage the heart, liver and other organs. A drug referred to as an iron chelator, an iron binding agent, can help rid the body of excess iron, preventing or delaying problems related to iron overload. The drug is usually administered daily via a mechanical pump that pumps the drug underneath the skin while the child is sleeping.

Children with Thalassemia Major who are treated with frequent blood transfusions and iron chelation live 20 to 30 years or longer. Thalassemia Major has been cured using bone marrow transplants. However, this form of treatment is possible only for a small minority of patients who have a suitable bone marrow donor, and the transplant procedure is still risky and can result in death.

As you read this, another baby is being born with the Thalassemia trait. Look around you. It may be affecting one of your closest friends or family members. You don't even have to look further than this article, to find the familiar face of Thalassemia. I was born with Beta Thalassemia minor. I inherited the trait from my father, who is of Mediterranean descent. Though I only had a minor case, ignorance about this disease not only left me without an understanding of the condition, but also led to misdiagnosis by my childhood physician.

Thalassemia and iron metabolism are closely linked, therefore iron deficiency and Thalassemia minor are often confused. At age 11, I was prescribed iron pills that I continued to take until I was 15. I didn't know then that iron would not help my condition in any way, and if anything, could cause complications. As I continued to take them, my body reacted negatively.

Though I didn't grow more than 2-4 inches in height, I experienced weight gain of somewhere between 70-90lbs. On top of that, my cycle became unpredictable, as well agonizing and long, as time went on. Those, as well as numerous other side-effects I had accepted as being ‘the way I was', all seemed to hit at once, but no one ever thought it might be the excess iron. I didn't suspect anything myself, until I stopped taking the pills years later and quickly found that my body started functioning normally again. Good news, but I have never fully recovered, physically and emotionally, from the experience, and should never have had to endure it to begin with. 22 year-old Juwita Muzaffar, was diagnosed with Thalassemia Major at the age of 23 months. Doctors first suspected it might be hepatitis, but after a round of tests, they discovered she had inherited this serious form of the disease. Intially, her mother opted to keep her off transfusions, because she was doing fine without them — so long as she wasn't doing any strenuous activities.

At the age of eight she started receiving transfusions. Her appointments were far apart at first, requiring her to go once every three months, but as the years went on the transfusions grew closer, and by the time she was 13, she was going in nearly every six weeks. "I dreaded going for my transfusions," Juwita admits, "and I hated spending the night in the hospital." Of course, along with the blood transfusions came iron-buildup, and she had no choice but to go through iron chelation to get rid of the excess iron. "That was the worst!" she recalls. "I hated having to prick myself every two nights, and go to bed with that uncomfortable contraption strapped to my abdomen."

Due to her frequent trips to the hospital, Juwita missed a lot of school, but thankfully, she managed to do alright. Her mother's was a familiar face at the school, as year after year she would visit all her daughter's new teachers to explain the condition to them. Juwita could not take part in Phys Ed., or do any other sort of athletic activities. If all that wasn't enough, Juwita constantly had to deal with people asking her why she was so pale, or why her eyes were ‘so yellow' (jaundice). "My friends, of course, wondered why," she explains, "so I tried telling them. Some of my closest friends knew, while others didn't."