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What is Thalassemia and what does it do? Thalassemia is a disease first
discovered by Dr. Thomas B. Cooley in 1925. It's an inherited genetic disorder that causes
our bodies to produce fewer healthy red blood cells and hemoglobin. Hemoglobin is a
substance in red blood cells that carries oxygen all throughout our bodies. It also carries
two chains called alpha globin chains and beta globin chains. Alpha globin chains are
made with four genes. Alpha Thalassemia happens when two to four of those genes are
missing. It can cause serious damage. Beta Globin chains are made with two genes and
when one of the genes are also missing or changed, Beta Thalassemia occurs. Red blood
cells will not perform properly when these chains are missing or altered. When red blood
cells can't perform tasks and work, they die and your body doesn't function correctly,
leading to serious consequences.
Thalassemia can be diagnosed by
taking blood tests, special hemoglobin tests,
or having a complete blood count, otherwise
known as CBC. CBC tests are used to
provide information about the amount of
hemoglobin and the different kinds of blood
cells in a sample. Hemoglobin tests are used to measure the types of hemoglobin in a
sample. It is usually diagnosed in early childhood due to the fact that signs and symptoms
of this disease appear in the first two years of a human's life. Doctors also do tests on
the amount of iron in the blood to find out if the Thalassemia occurred because of iron
deficiency. Since Thalassemia is an inherited disorder, a simple way to diagnose it would
be to conduct family genetic studies. This helps
by looking at the history of family traits, similar
to a pedigree.
There are ways to tell if a person has Thalassemia.
Symptoms can include slowed growth and delayed puberty in
children and teens. Bone problems can make the bones
become wider than normal because of expanding bone marrow,
more fragile, and easy to break. These bone problems occur
mainly in the face. More signs of Thalassemia can be an
enlarged spleen. People with Thalassemia have hard-working
spleens. In some cases when a spleen becomes too large, it
must be removed. The heart and liver might grow bigger as
well. Some people's appearance becomes pale and listless. They lose their appetites, have
dark urine, and get jaundice as a result of Thalassemia. They might also feel tired and
drowsy. Carriers of Thalassemia often show no signs of the disease.
Unfortunately, because Thalassemia is passed on from parents to offspring, it
cannot be prevented, however, it can be treated. Treatments for Thalassemia include
Blood Transfusions, Iron Chelation Therapy, Folic Acid Supplements, Blood and
Marrow Stem Cell Transplant, as well as treatments that researchers are still conducting
experiments on. When given a blood transfusion, the patient receives new healthy red
blood cells and more hemoglobin through a needle being inserted into their vein. Iron
Chelation Therapy is needed and used to remove excess iron from the body using two
medicines, Deferoxamine and Deferasirox. Deferoxamine is a liquid given under the skin
with a pump, and Deferasirox is a pill that is taken daily for patients with Thalassemia.
Both may cause side effects such as loss of hearing and vision, headaches, nausea, joint
pain, fatigue, vomiting, and diarrhea.
Thalassemia does not affect a person based on gender, but it is more common in
some nationalities more than in others. For example, Alpha Thalassemia mostly occurs in
people of the Southeast Asian, Indian Chinese, or Filipino origin, while Beta
Thalassemia mainly occurs in people of the Mediterranean, Asian, or African origin.
Even though it is more common in these nationalities, it does not mean that others are not
at risk. It affects all people.
People who live Thalassemia today go through daily treatments including taking
folic acid supplements. Many people have been cured and blood screening have lowered
the amount of infections in blood transfusions. Also new treatments are becoming
available, and making it easier for people with this disease to take them. People who have
Thalassemia are recommended to always wash their hands, avoid crowds during cold and
flu season, keep skin around blood transfusion areas very clean, and to contact their
doctors if a fever occurs.