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
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
This article originally appeared
in The Voice,
student publication at Oakwood High in Toronto, Ontario.