I have a chance!
The blog of Heather. G. Mason
My name is Heather Grace Mason and I am a victim of Thalassemia major.
Friday, 23 March 2012
So there is hope after all...
Yesterday, after school an email was sent to me by Dr. J. Anderson. THEY FOUND A PERFECT MATCH FOR ME! They have found a donor who has the same blood type and similar marrow stem cells as me! This means that I am able to have a chance to be normal like everyone else! I'm able to attend school without missing out on lessons because of appointments and hospital visits. I am able to run around, play sports, do dancing with my older sister without getting tired and sick. I do not need to have anymore blood transfusions and iron chelation therapy! NO MORE NEEDLES! I can now do anything I want, without worrying my family members. I am now able to have a future everything it in reach now.
Do you have Thalassemia?
To find out if you have Thalassemia or not, you must visit a doctor for an examination. For me, and maybe other people with Thalassemia major, started of being very sick at a young age ranging from 6 months old and discovered by a blood test from the hospital, because our parents didn't even know they have the condition because they a carriers with no symptoms. Others may have a physical examination of the swollen spleen if there is one. Or a complete blood count, which is a blood test.
Thursday, 22 March 2012
Is there any hope....?
Carriers of Thalassemia, either if they are beta or alpha, don't need any treatments because nothing really happens to them. But for people with Thalassemia major, its different. To survive, victims of Thalassemia major have to have regular blood transfusion and iron chelation therapy. There are other treatments as well but they are not as popular as these two.
There is a cure for Thalassemia, but it requires a donor donating blood & marrow stem cells. This is very rare, because it is nearly impossible to find a perfect match of the donor and the patient. If there is a perfect match, the donated blood and marrow stem cells are used to replace the faulty ones of the patient. Its a risky procedure but its a chance....
There is a cure for Thalassemia, but it requires a donor donating blood & marrow stem cells. This is very rare, because it is nearly impossible to find a perfect match of the donor and the patient. If there is a perfect match, the donated blood and marrow stem cells are used to replace the faulty ones of the patient. Its a risky procedure but its a chance....
Alpha and Beta Thalassemia, What in the world?
So, what in the world is Alpha and Beta Thalassemia? Well, because I've heard this from five million doctors, just kidding only five but yeah its alot, I think I'm able to explain it. So here I go...
Alpha and Beta's are two important protein chains of the haemoglobin.
Alpha and Beta's are two important protein chains of the haemoglobin.
The Alpha and Beta symbol (Alpha < left : Beta > right) |
Alpha Thalassemia
In a normal healthy human, everyone receives four alpha globin genes. In alpha Thalassemia, the person affected only has two to three normal alpha globin genes for haemoglobin.
Alpha is a very important gene, because without it you would DIE! A person without any alpha globin gene have a condition called 'Bart's hydrops fetalis' and the baby will die during the pregnancy or shortly after birth. Another condition is Haemoglobin H disease which the person only recieves one alpha globin gene.
Beta Thalassemia
In a normal person, only two beta globin genes are given. Beta Thalassemia is a condition where one in two beta globin genes are mutated. For a patient, like me, who has beta thalassemia major will need regular blood transfusions from three to four weeks to correct the anaemia and accumulate the excess iron.
Alpha is a very important gene, because without it you would DIE! A person without any alpha globin gene have a condition called 'Bart's hydrops fetalis' and the baby will die during the pregnancy or shortly after birth. Another condition is Haemoglobin H disease which the person only recieves one alpha globin gene.
Beta Thalassemia
In a normal person, only two beta globin genes are given. Beta Thalassemia is a condition where one in two beta globin genes are mutated. For a patient, like me, who has beta thalassemia major will need regular blood transfusions from three to four weeks to correct the anaemia and accumulate the excess iron.
My family tree...
Here is my family tree which I drew by hand. Its not perfect but yeahh whatever....
As shown, the diagram of my family tree tells us that only in the third generation did Thalassemia major make its presence. This could mean that my grandparents, parents, aunts and uncles, cousins and siblings may be carriers of Thalassemia or have normal blood, with nothing to worry about.
This diagram shows a couple (who are carriers of Thalassemia) and the possibility of their children having Thalassemia major. The punnett square or should I call it the 'look alike family tree', shows us a ration of 1:2:1. Here, Thalassemia major is present in one out of four children. Thalassemia minor is present in two out of four children and like Thalassemia major, only one child out of four will be normal.
Family tree which shows who are affected by Thalassmia major in my family. |
Punnett square that have been modified to a look like a family tree! |
This diagram shows a couple (who are carriers of Thalassemia) and the possibility of their children having Thalassemia major. The punnett square or should I call it the 'look alike family tree', shows us a ration of 1:2:1. Here, Thalassemia major is present in one out of four children. Thalassemia minor is present in two out of four children and like Thalassemia major, only one child out of four will be normal.
Blame my parents...
So why am I blaming my parents? Well, its because Thalassemia is a recessive genetic blood disorder, meaning that both of my parents have to have a recessive Thalassemia genotype to pass it down to me, or another possible way is, for them to be like me, and be the victims of Thalssemia major, which they're not.
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