The word “Thalassemia” is a taken from a Greek word “thalas” referring to the “sea” and the “anemia” i.e. “-emia“. Therefore, Thalassemia is a blood disorder which is marked by the abnormal synthesis of the protein known as hemoglobin and a resultant shortened life span of the red blood cells.
In our body when the amount of hemoglobin is less, it also lacks the healthy red blood cells that function properly and does not have a long life span. The resultant is only fewer amount of cells are working throughout the body by travelling into the bloodstream.
Our body has numerous cells with different functionality, however the common thing is their requirement of oxygen, which is provided by the red blood cells. The red blood cells carry oxygen by moving in the blood stream and thus providing the oxygen to each and every living cells of the body.
However, if our body does not have sufficient amount of red blood cells, the whole system will get disturb as the enough amount of oxygen will not be delivered to all the active cells of the body and thus resulting in tiredness, breathing issues, etc. This condition is termed as anemia.
As mentioned earlier, the person with thalassemia might have mild or severe type of anemia. The severe can be life threatening as it may cause damage to the organs and and leads to the person death.
Types of Thalassemia
The type of of Thalassemia, completely depends on either of the two factors; firstly the particular part of the hemoglobin (either “alpha” or “beta”) is affected or it can be due to severity of the disorder ( thalassemia), which is addressed by the words carrier, intermedia, major or trait.
Hemoglobin, is the carrier of oxygen to all the cells in the body, and is made up of two parts, termed as ‘alpha’ and ‘beta‘. When the thalassemia is known as alpha thalassemia, if refers that the alpha part present in the hemoglobin is not being made or is not present in sufficient amount. If the condition is beta thalassemia, that means the hemoglobin lacks the beta content and aren’t suffice to make the building blocks to the normal level.
Similarly, a person characters such as body structure, hair color, etc. are transfer from their parents and same are the traits of thalassemia, which is passed from the parents to their children. Although the level of severity and the a type of traits that are been inherited from the parent to a child decides the type of thalassemia, i.e. it can be major or minor.
For instance, if a person has received the alpha thalassemia traits from his father and same from his mother, that person will have alpha thalassemia major. On contrary, if a person has received beta thalassemia traits from her mother and the normal beta traits from her father, the person will be said as the beta thalassemia minor.
Noticeable, is if the person has the thalassemia traits but does have any symptoms, chances are more of transferring such genes to their next generation, where these traits can express the characters of thalassemia and increase the risk of the disorder. Beta thalassemia major is also knowns as ‘Cooley’s Anemia‘.
Alpha-thalassemia is considered to be more severe than the beta, as this type completely depends mutated genes and their numbers that have been inherited from the parents to their children. In such condition, four genes are involved in making the alpha hemoglobin chain, two genes from each of the parents. If in case:
One mutated gene, the person will have no signs or symptoms of thalassemia, but the person is the carrier of the disease and may pass it to their children.
Two mutated genes, the signs and symptoms of thalassemia will be mild and the condition is termed as alpha-thalassemia trait.
Three mutated genes, the signs and symptoms of thalassemia will be moderate to severe.
Four mutated genes, this is the rare case and child with this often have short life-span or have to undergo lifelong transfusion therapy and a stem-cell transplant.
In this condition two genes are involved in the producing beta chains in hemoglobin, and one is received from each of the parent. If in case:
One mutated gene, the signs and symptoms are normal and this is termed as thalassemia-minor or beta-thalassemia.
Two mutated genes, The signs and symptoms are moderate to high and this condition is termed as Cooley anemia, or thalassemia major. Babies born with this condition is rare case and will develop the signs and symptoms in first two years of their life.
Symptoms of Thalassemia
There are various types of thalassemia, and therefore the signs and symptoms may vary from the person to person and the level of severity of the disorder, following are few common signs that have been noticed on the person suffering from thalassemia:
- Slow growth.
- Dark urine.
- Abdominal swelling.
- Pale or yellowish skin.
Some babies express the signs the symptoms of the thalassemia at birth or early stage of life or within first two years fo life, but people whose only one hemoglobin gene is affected may not show thalassemia symptoms.
Facial bone deformities.
Thalassemia is caused by the mutations in the cells of DNA that are responsible for making hemoglobin (substance in the red blood cells and is the carrier of oxygen throughout the body). As mentioned earlier that these mutated genes which are associated with the thalassemia are transferred from parent to their children.
The hemoglobin is made up of two chains, alpha and beta. When there is mutations in these chains, it affects the production of either the alpha or beta chains in case of thalassemia and thus the number of these chains might get reduced and thereby resulting in alpha-thalassemia or beta-thalassemia.
The two critical factors in the thalassemia are, family history of thalassemia, and a certain ancestry.
Following are the few complications that may occur to the person of moderate to severe thalassemia:
Infection: People with thalassemia needs to be careful as they have high risk of getting infected, especially if their spleen is removed.
Iron overloaded: People with this disease, have the increased rate of iron intake in their body due to blood transfusion or medications. Therefore, too high level of iron in the body may affect the liver, heart, endocrine system and also other hormone producing glands and that regulated the whole body functions.
Slow growth rate: Anemia affect the normal growth of a child’s and its too slow and thus delay in puberty.
Bone deformities: Due to the thalassemia bone marrow may get expand and resulting in the bones to get widen. This also show the abnormal bone structure, noticeable in skull and face. The bone marrow expansion also makes te bones brittle and thin and thus increasing the risk of the broken bones.
Spleen: The role of spleen is to fight against the infection and thus cleanses the unwanted and foreign material, damaged cells from the blood. Similarly, it also works in filtering the red blood cells and thus destroys the numbers of the unwanted or damaged from cells from there. In thalassemia when the destruction of large number of red blood cells is done, and so the role of spleen becomes harder and later if problem arises in severe anemia, doctors may suggest to remove the spleen through surgery.
Heart problems: Abnormal heart rhythms and congestive heart failures are the result that have been in severe thalassemia.