Over one third of the world’s population suffers from anemia.With 80% of India’s population being Anemic, anemia directly or indirectly is one of the major silent causes of 65-70% deaths because this condition does not permit required resistance and support to morbid patients to fight for their life. So, lets understand what anemia and thalassemia are:
Starting from the very basics- there are three types of blood cells in the body
Their functions:
Red blood cells help carry oxygen to various parts of our body.
White blood cells help fight viral bacterial and other infections keeping us healthy.
Platelets help blood clot.
To understand anemia and thalassemia we must understand the red blood cells (RBCs)
Why? What are red blood cells composed of?
RBCs contain hemoglobin whose structure is shown above. Looking at the simplified version we realize that hemoglobin consists of heme groups= iron and protein chains-shown by the circles. On breaking the word hemoglobin as shown below:
We see that hemoglobin consists of iron and protein. But why is hemoglobin so important? What does it do?
Function of hemoglobin : carries oxygen from the lungs to the tissues.
Anemia is a defect in hemoglobin. So if there is a defect in Hemoglobin, does oxygen reach the body properly? If the body does not receive enough oxygen, can the body function properly?
This brings us to the symptoms of Anemia
To know if there is a defect in hemoglobin we need to know what the normal level of hemoglobin should be and how we categorize patients who are anemic
People who are severely anemic that is people whose hemoglobin level drops below 8g/dl cannot be treated with dietary changes and pills- they need to be hospitalized and given injections. So under no circumstances should one let their hemoglobin level drop below 8g/dl.
There are various types of Anemia majorly:
Now after having read the information above, it should be easy to understand anemia caused by iron deficiency. As I mentioned above, hemoglobin consists of iron and protein. Deficiency in Iron can lead to defects in hemoglobin leading to anemia.
Anemia caused by vitamin B12 deficiency is the second type. Although I have not mentioned anything about vitamin B12 prior to this just knowing that vitamin B12 helps in the making of proteins in the body helps us understand how a deficiency in vitamin B12 implies a deficiency in proteins and hence a defect in hemoglobin leading to anemia.
We now move to the third cause of anemia-THALASSEMIA. Before we get to understanding what thalssemia is we first discuss the difference between the first two and this third cause of anemia.
Lets say you were born normal that is your hemoglobin level was 12g/dl or above. For some reason the iron and vitamin B12 content of your food did not match the requirements of your body and your hemoglobin levels fell below 12 and hence you are now anemic. As mentioned above if you have a high iron diet supplemented by iron or vitamin B12 pills as necessary, your hemoglobin level can be restored to normal. Thalassemia on the other hand is a genetic disorder- if your parents are thalassemic, you may be thalassemic and if you are thalassemic, your children may be thalassemic. Further if one is born normal, he/she cannot become thalassemic and if one is born thalassemic, they will always remain thalassemic. We can only reduce the effect that this has on our body.
We now get into a discussion on thalassemia.
Thalassemia manifests itself as a deficiency in folic acid in the body. But what is thalassemia? Thalassemia is a defect in the protein chains of hemoglobin. A defect in any of the two alpha(α) chains is called alpha thalassemia and a defect in any of the two beta(β) chains is called beta thalassemia.
However beta thalassemia is more common of the two hence we will discuss beta thalssemia in further detail. First off-
Genes govern every characteristic of our body. In the simplest sense we receive one gene from our mother and one from our father for each characteristic and it is the interaction of these genes that decide whether our hair is straight or curly, our nose is long or short, our eyes are blue or brown,etc. Of course some characteristics are governed by more than one gene but lets not get into that!
Hence we get one β gene from our mother and one β gene from our father and it is the interaction of these that decides whether our β chain is normal or defective. Lets consider the following- a normal gene is represented by the red box while a defective gene is represented by the black box
So a normal person has both β genes normal that is these people receive a normal β gene from the mother and the father. Someone who is β thalssemia minor has one normal and one defective gene- that is such people receive one normal gene from their mother or father and one defective gene from either of them. Being thalassemia minor is not life threatening. I myself am thalssemia minor. The only problem is that our hemoglobin level lies between 9-11g/dl. I have never seen my hemoglobin level reach 12g/dl. So why bother if I can never be normal? So that it does not drop below 8g/dl. The problem lies in being thalassemia major. Such children have to undergo blood transfusions every 15days and they live for a maximum of 30-35yrs.
Next we shall discuss what must be done if we are thalassemia minor and how we can prevent the production of thalassemia major children.
First lets see how thalassemia major children are produced?
If a normal person marries a person who is thalassemia minor and they produce children- with every pregnancy there is a 50% chance that the child is thalassemia minor and 50% chance that the child is normal as shown below
But is there anything wrong or problematic in this cross? Like I mentioned earlier being thalassemia minor is not a life threatening condition.
The problem lies when two thalassemia minors produce children. As seen below, with each pregnancy there is 25% chance that a normal child is produced, 50% chance that a thalassemia minor is produced but 25% that a thalassemia major child is produced.
Hence we realize that a β thalassemia major child is produced only when the mother and father are both β thalassemia minor.
So what should be done if one is β thalassemia minor? Folic acid pills 1pill/day. Iron pills will have no effect on a thalassemic patient because folic acid helps is the absorption and assimilation of iron in the body so a thalssemic person who is low on folic acid will not be able to use the iron even if I is present. Further too much iron and no folic acid can result in iron accumulation which can lead to organ failure and can be life threatening.
Lastly we discuss how to prevent the birth of a thalassemia major child. There are three simple steps
1. 1.test yourself- are you β thalssemia minor?
As explained above a β thalssemia major child is produced only when both parents are minors. If one is a minor but the other is normal, such a child cannot be produced so step 2 must be done only if you test positive for β thalassemia minor.
2. 2. If you are β thalssemia minor get your spouse tested- is he/she β thalssemia minor?
3. 3. If you both are get your child genetically tested- is the child β thalssemia major?
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