Thalassemia Disease Hemoglobin Essay
Thalassemia Disease Hemoglobin Essay
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. Thalassemia Disease Hemoglobin Essay. 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.Thalassemia Disease Hemoglobin Essay. 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. Thalassemia Disease Hemoglobin Essay.
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.
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.
Each of these forms of thalassemia has different subtypes. The exact form you have will affect the severity of your symptoms and your outlook. Thalassemia Disease Hemoglobin Essay.
The symptoms of thalassemia can vary. Some of the most common ones include:
- bone deformities, especially in the face
- dark urine
- delayed growth and development
- excessive tiredness and fatigue
- yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic abnormality from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier. Some people with thalassemia minor do develop minor symptoms. Thalassemia Disease Hemoglobin Essay.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
Thalassemia is most commonTrusted Source in people from Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.
There are three main types of thalassemia (and four subtypes):
- beta thalassemia, which includes the subtypes major and intermedia
- alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
- thalassemia minor
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Thalassemia Disease Hemoglobin Essay.
Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.
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Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some of the treatments include:
- blood transfusions
- bone marrow transplant
- medications and supplements
- possible surgery to remove the spleen or gallbladder
Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you need blood transfusions because people who receive them accumulate extra iron that the body can’t easily get rid of. Iron can build up in tissues, which can be potentially fatal. Thalassemia Disease Hemoglobin Essay.
If you’re receiving a blood transfusion, you may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each parent, are inherited to make beta globin. This type of thalassemia comes in two serious subtypes: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Thalassemia major
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing.
The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include: Thalassemia Disease Hemoglobin Essay.
- fussiness
- paleness
- frequent infections
- a poor appetite
- failure to thrive
- jaundice, which is a yellowing of the skin or the whites of the eyes
- enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.
Thalassemia intermedia
Thalassemia intermedia is a less severe form. It develops because of alterations in both beta globin genes. People with thalassemia intermedia don’t need blood transfusions.
