What is Thalassemia?
Thalassemia occurs when a change in genes happens. The information to make hemoglobin [oxygen carrier] leads to less or no production of this crucial protein. It is also known as Mediterranean Anemia, Cooley’s anemia, and Homozygous Beta Thalassemia. A large amount of iron is present in Hemoglobin. Usually, iron is used when red blood cells break down to make a new red blood cell. However, in thalassemia, hemoglobin has a much smaller lifespan. This lack is called Anemia. A common type of Anemia is when people do not eat enough iron to make hemoglobin, called iron-deficiency anemia. Thalassemia is very different, and do not have enough Hemoglobin because of the inheritance of the defective gene.




Where are most of the victims? Thalassemia is common between Chinese, South Asian, and Middle Eastern, Mediterranean or African origins.




What is the History of the disease?
Thalassemia is a relatively old disease. It's first cases take place near bodies of water. The first allele of Beta-Thalassemia occured in Turkey around 6500 to 2000 BC. Since then, common mutations of the disease formed. The disease was also reported first with children in the Mediterranean Sea. Alexander's army is said to have infected India with the blood disorder around 326-323 BC. The term "thalassemia" is derived from the Greek word "thalassa" or sea while, "emia" is blood in Greek.

What are the Main Forms?
Thalassemia Trait [Carrier] Although the gene is carried, patients are not ill. They are healthy, And may suffer from slight Anemia. The gene can be handed down through generations.
Thalassemia Major [Affected] A serious disease that begins from childbirth. They are normal at birth, but start suffering from 3-18 months. They are very pale, d on’t sleep well, do not want to eat, and vomit regularly. If it goes untreated, a child may die before they turn eight.

How is it Diagnosed?

CBC [Complete Blood Count] Helps in determining how severe the health conditions are. Low Hemoglobin, increased number of red blood distribution width, and hypochondria [paleness] are indicators of Thalassemia. It does not tell what type of Thalassemia or iron levels. Silent carriers patients will not find this test beneficial. The test is inexpensive, and patients should take it regularly to keep the hemoglobin count in control. Normal hemoglobin ranges between 13-18 grams deciliter for men and 12-16 for women.

Hemoglobin Electrophoresis
Helps in figuring out which type of hemoglobin the body is missing and thus, determines which Thalassemia one has. It is not very accurate with iron deficiency patients. Also, silent carriers will have no results with this test. More expensive than CBC, and it takes a couple of days for the results.

DNA Testing
Confirms the kind of Thalassemia the patient has inherited with accuracy. In some labs, even the specific mutations can be classified. The test is expensive and takes time to be analyzed.


What are the Signs and Symptoms?
Silent carriers usually have no symptoms. Carriers with Alpha or Beta Thalassemia Trait also lack any major symptom. In extreme cases: such as Thalassemia Intermediate or Major one can find: fatigue and weakness, pale skin, protruding abdomen with a bigger spleen and liver, dark urine and abnormal facial bones with poor growth.




How can one inherit Thalassemia?
Thalassemia is an inherited Autosomal Recessive Blood Disease. It is not sex linked because the genetic traits are located in the non-Sex determining chromosomes. A recessive trait becomes phenotypically present when two alleles of a gene are present, or homozygous. These disorders occur when both parents are carriers, and thus, only a 25% chance of the offspring having both recessive alleles present. 50% of their offspring will be a carrier, and 25% of the child being unaffected. If one parent is Homozygous affected and one is a carrier, the chances of their kids being affected are 50%.

What are the Types?
Alpha Thalassemia - when one or more of the four alpha chain genes fail to function
Beta Thalassemia - when one or both genes of the beta chain is affected [fails to function normally]
Delta/ Delta Beta Thalassemia- A rare type, similar to beta thalassemia.
Thalasssemia Major - Homozygous form of Beta Thalassemia
Thalassemia Minor - A carrier of Beta Thalassemia.
Cooley’s Anemia- similar to Thalassemia. Major


What are the Treatments available currently? And in the future?
Blood Transfusions
For severe forms of the disease, provides healthy red blood cells. Transfusion takes place every 2-4 weeks, or in cases of extreme weakness, in order to keep the hemoglobin levels balanced, this is done. A patient usually feels much more alive and active after a transfusion. However, it is expensive and a risk of catching viruses is there. In addition, Chelating therapy is required in order to prevent iron overload, which is fairly common with Thalassemia patients after a transfusion. Overload of iron, can harm the heart, liver, and other parts of the body.


Surgery
If body organs such as spleen or gall bladder become affected, it should be removed. For example, if the spleen inflames or enlarges or if gallstones develop.

Bone Marrow/ Stem Cell Transplant
Have been used in children with severe thalassemia. It is currently the only permanent cure available. Donors are usually family members, especially siblings. The younger the donor and recipient is, the more convenient the procedure. Although, terribly risky and time needed for the body to prepare itself, successful cases are more common recently, with better technology and procedures.

Iron Chelating Therapy
Is done with Transfusions, and uses medicine like Deferoxamine to remove the iron. It works best with a portable pump that takes the medicine straight into the bloodstream. Since it is painful, a pill, recently approved in 2005 called Deferasirox is also available [only in the USA].

Others
- Patients with Thalassemia are more likely to catch infections, and should be given regular Pneumonia and annual flu shots.
- Folic Acid a B Complex Vitamin helps build red blood cells. Patients must take daily supplements.


In the Future
- Fetal Hemoglobin, also a treatment in the making, will allow the Fetal Hemoglobin, which is made before birth being used. After the child is born, the body begins to make normal hemoglobin. The continuation of the Fetal Hemoglobin being produced decreases the severity of the disease.
- Gene Therapy, a treatment to be more advanced in the future will be able to cure Thalassemia permanently by inserting a normal gene into the child’s stem cells.


How can it be Prevented?
There is no prevention to the disease, however Parents can receive Genetic Counseling so that the disorder is not passed on. Prenatal Diagnosis can identify it before birth. Usually, parents who are silent carriers May not know of their disease because of the lack of symptoms.


Biography
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- http://www.thalassemia.org/sections.php?sec=1
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- http://sickle.bwh.harvard.edu/thalover.htm