Thalassemia Disease Hemoglobin

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Thalassemia

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.

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