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. 

I have a chance!

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.

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....

Thalassemia International Day!

Thalassemia International day is on the May the eighth! 

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.

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.

My family tree...

Here is my family tree which I drew by hand. Its not perfect but yeahh whatever....

Family tree which shows who are affected by Thalassmia major in my family.

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.

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.

Doctor's appointment again....

Just came back from a doctor's appointment. Same as usual, black and white...boring. It's the same, every single time I visit the hospital... I either have a blood transfusion and an iron chelation (pronounce as ke-lay-shun) therapy or a blood test. Ugh!

Today at the hospital, I had a blood transfusion. Blood transfusion is very important, it saves my life and gives me a chance to be a normal human being, where I can participate in activities at school such as sports.

The reason being that, blood transfusion gives me healthy red blood cells with normal haemoglobin. The red blood cells only live up to approximately one-hundred and twenty days, so I have to visit the hospital monthly for another transfusion. Usually the blood transfusion takes up to four hours but today it only took about two hours. What a SCORE!

After the Blood transfusion I had an iron chelation therapy to remove the excess iron from the blood transfusion earlier. There are two options:
Either Deferoxamine which is a liquid medicine subcutaneous injected slowly under my skin. It's painful and I hate it! (I get them when I visit the hospital like today) and the other option is Deferansirox, which is the one I prefer. Its a pill which is taken daily, easy :) but it makes me nausea and gives me really bad headaches. Some times its bad enough for me to miss school.

History lesson...

I was helping my mum dusting the bookshelf the other day, and stumbled across a book. It was badly damage, the spine came apart with loose pages flying everywhere as I examined it. The book was ancient, probably older than my grandparents and they are like, very, very old... I couldn't read the title because there was a dark ink stain over it, but by the looks of the loose sheets and the cover, the book had something to do with the human body. Flipping through the pages, I came across a section about the discovery of Thalassemia.

According to the ancient book, the word Thalassemia originated from a Greek word 'Thalassa' meaning sea. Therefore, Thalassemia means sea in the blood because 'Mia' came from the word 'Anemia'  which, obviously means blood if Thalassemia means 'sea in the blood'. 

In the year 1925, an American physician, haematologist and professor of hygiene and medicine Dr. Thomas Cooley, first described the disease and called it 'Erythroblastic anemia' but because its such a mouthful, people refer to it as Cooley's anemia. 

Now a days, with the help of technologies, scientists are able to determine that originally, Thalassemia is found in warm areas of the world such as: the Middle East, Gulf region, Mediterranean countries, Northern parts of Africa, South-East Asia and Indian sub-continent. 

So this is a map that I found on google image,
showing countries where Thalassmia originated.

So, what is Thalassemia?

Thalassemia is a genetic blood disorder. It affect the way my body produces red blood cells and haemoglobin. Compared to a normal healthy human being, I have less haemoglobin and my red blood cells are weirdly shaped and small.

This is what normal red blood cells looks like.
(just so you know, the purple thing is the white blood cell)

This is Thalassemia minor's
red blood cells

There are two types of Thalassemia. You can either be a carrier where you are asymptomatic, meaning that you don't generally get any symptoms of the condition. Because the lack of protein is so, so minor that it does really do anything to effect the body's haemoglobin.

So this is what my red blood cells look like.
They are weirdly shaped and pale.
the dark RBC's are from the blood transfusion

Or you are unlucky like me and have Thalassemia major. Where your symptoms really do make an appearance, and puts your life on the edge of danger. The symptoms follows,

-Pale, listless appearance
-Poor appetite
-Dark urine - from the red blood cells breaking down
-Slowed growth & delayed puberty
-Jaundice - where the person have yellowish skin/ in the whites of their eyes
-Enlarged spleen, liver, heart - from the collection of iron
-Bone problem - usually the face if the person doesn't get treatments
-Shortness of breath - blame my Haemoglobin!

Just like personal interests and appearance, everyone is different and the symptoms are different depending on the person. I do not have all these symptoms its just a list of what to expect if you have Thalassemia.

Why does this blog exist?

The reason why I started this blog is because, I forced by Dr. J. Anderson. Not really. Well yes, kinda. He told me in his exact words, "Heather, I think you should start a blog, because from my experience with other patients, it will help you to understand you condition immensely well. There are alot of people just like you who are blogging, so why don't you try it out?"

Whatever floats your boat Dr. Anderson but, I think its stupid...Whatever...

Heather. G. Mason...

My name is Heather Grace Mason, I'm a fourteen year old teenager living with Thalassemia major. Since the age of three and a half, I have been diagnosed with Beta Thalassemia major.  My life has not been normal with Thalassemia, and every morning that I wake up and greet the sun is a gift that I grab with both hands. I treasure life, because I fight for it everyday.