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WHAT IS THALASSEMIA?

TESTS AND TREATMENTS

Thalassemia is an inherited blood disorder which occurs when there is an absence or reduction of the hemoglobin. Normal blood cells contain between 240 and 300 million molecules in the hemoglobin. Inside the hemoglobin there are two sub-units which are known as alpha and beta globin chains. These chains are folded to hold haem molecules which allows it to combine with oxygen. The chains then pass it onto other cells and tissues inside the body. The gene locus that controls the production of the alpha chains is called the alpha globin cluster. This means that the beta globin cluster produces beta chains. Changes, imbalance, destruction of these genes/chains is when thalassemia arises. But in some cases only disorders in haem productions may occur.It is also known as a type of hemoglobinopathy.

What is the name(s) of the disorder?

Thalassemia, or also known as Heredity or the Mediterranean anemia.

There are two main types of thalassemia, Major and Minor. These rely on the level of the disease. People with Thalassemia minor are less likely have the symptoms of someone with thalassemia Major. Even further inside thalassemia are two more types called alpha thalassemia and beta thalassemia.

People who are diagnosed with thalassemia will normally have decreased sized red blood cells, as well as red blood counts.

Thalassemia Minor:

Thalassemia minor is when the patient only has changes to one of the gene chains in beta thalassemia, or one or two of the gene chains in alpha thalassemia. People with thalassemia minor have low to none of the symptoms, but are infact carries of the disease and can pass the disease onto their children.

Thalassemia Major:

Thalassemia major is the opposite of minor. It was when one person has more than half of the gene chains altered (either alpha or beta thalassemia). People with thalassemia major will experience the symptoms of the disorder.

Thalassemia occurs when a mutation appears in one of the genes involved in the production of hemoglobin.

Doctors often use blood tests, which include complete blood counts (CBC), Blood transfusions, bone marrow transplant, Iron chelation, medications and supplements (Folic Acid), possible surgery to the spleen (which enlarges when someone is diagnosed) and/or possibly to the gallbladder.

Blood Transfusion: injecting a certain amount/volume of blood that has previously been taken from a healthy person, and is then implanted into the diagnosed patient (keep in mind, the same blood type (B +/- , A+/-, O+/-, AB+/- (Only 1% of Australians have AB- blood), only in some cases are different blood types infused into the patient).

Bone Marrow Transplant: When damaged/destroyed bone marrow is replaced with healthy bone marrow stem cells. Stem cells are the immature cells in bone marrow that give rise to your blood cells.

Complete blood count (CBC): a blood test used to evaluate the overall health and detect disorders in disorders in the patient which includes: anemia, infection and leukemia. It tests the features of the blood.

THE HISTORY OF THALASSIMIA

HOW IS IT INHERITED?

Thalassemia was first discovered by Dr. Thomas Cooley in 1925 when he was observing patients in the mediterranean. He decided to name the condition Cooley’s anemia until doctors at the University Of Rochester changed the name to Thalassemia which translates to “sea in the blood”, which refers back to the fact it was widespread in the mediterranean. At the same time in Italy a disease called Rietti was discovered and described similar to Thalassemia (Cooley’s anemia at the time) but less ‘intense’. Today it is known as Thalassemia minor.

Although it was discovered in 1925 it wasn't until 1938 it was recognised as a genetic disease. Bone marrow transplants were first used in 1982 and gene therapy was first used in 2007.

1.Thalassemia is inherited when either or both of you parents are carriers of the disorder. It is an autosomal recessive gene, but cases are known of it being dominant. It is the most common blood inherited disorder.

In some cases if only one of the parents are the carrier of the disorder, there is more of a chance for the person to form “thalassemia minor”. But if both parents are carriers of the disease, the person has around a 25% chance of inheriting a more serious disease (Thalassemia Major).

Example: If two people who are carriers of the disorder decide to have children:

25% Chance of the child developing thalassemia major, because they inherited the gene from both their parents.

25% Chance of not inheriting this disorder at all and not becoming a carrier.

50% Chance of inheriting the gene from one parent and becoming a carrier of the disorder.

THALASSIMA

HOW TO IDENTIFY THALASSEMIA

Thalassemia has a few different levels of diagnosis: alpha, beta and thalassemia major, alpha, beta and Thalassemia minor. Major thalassemia shows more signs and symptoms, especially earlier on in infancy. Minor thalassemia is when the diagnosed does not experience symptoms but is a carrier of the disease.

There are many different symptoms for someone with thalassemia Major.

If someone is diagnosed with either a harsh case of alpha or beta thalassemia major, it is most likely life threatening. People who suffer with thalassemia major have 4 chains (alpha) or two chains (beta) in their hemoglobin that don’t function properly.

SYMPTOMS

-Fatigue

-Enlarged spleen

-Bone pain

-Propensity to broken bones

-Shortness of breath

-Lack of appetite

-Dark urine

-Jaundice (yellowing of the -skin and whites of the eyes)

-Liver dysfunction.

-Facial bone deformities

-Growth failure

GENOTYPE

The genotype for thalassemia is what lies inside the genes, or more so, what lies inside the hemoglobin.

The genotype is written down as:

One chain affected = -/a or a/a (Mostly a/a) (Also known as Alpha thalassemia silent)

Two chains affected = -/a (Mild Anemia)

Three chains affected = -/a (Mild - Moderate Anemia, which comes with some symptoms)

Four chains affected = -/- (Severe Anemia)

GENESTIC DISORDERS

Genetic Disorders are genes which can be inherited from both parents. In some cases the genes are ‘changed’ or a singular gene is affected. This is called a mutation. Mutations can be as small as a single gene mutation to the subtraction of an entire chromosome. Mutations affect the way that protein in the cells are made and it either, doesn’t function properly or is entirely lost, which is medically called: a Genetic Disorder. They can be inherited from both or either parents.

PHENOTYPE

The phenotype includes all symptoms they can sometimes be very minor, and sometimes be near life-threatening.

Most of the populations that are diagnosed with thalassemia are most commonly found in countries such as: The Middle East, Southeast and Central Asia, the Mediterranean, India, North Africa, Iran. It was mostly found in child immigrants in Italy and Greece. It is mostly only in these areas because they contain the highest rate where malaria is or was still existent.

People of Mediterranean, Middle Eastern or South Asian background are more likely to be carriers of alpha or beta thalassemia than other populations.

Thalassemia b is more present in locations such as: The Middle East, in Central, South, and Southeast Asia, and in Southern China, and countries like: Southeast Asia, Africa, and India are more likely to have higher cases of thalassemia.

80 to 90 million people in the world are carriers of thalassemia b (1.5%), whilst 5% of the population are carriers of thalassemia a.

150 million people in the world are carriers of thalassemia and 60,000 to 100,000 babies are born each year with either a major or minor form of the disease. Infants who are diagnosed with thalassemia aren’t fully diagnosed at birth because of a form of hemoglobin that is present in the fetus, but this is sadly then soon replaced by a mutated hemoglobin. Symptoms will then appear in around the first year of infancy.

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