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This is how the number of red blood cells look like in Thalassemia major
Genetics disorders are illnesses caused by abnormalities in genes or chromosomes. Some of them are minor disorders and are passed through generations, while others occur to a child while growing in his/her mothers "belly". They can be anything from small unnoticeable details or problems that let people live a normal life (like minor color blindness) to being disfigured and not being able to live an ordinary life. I hope you will enjoy reading this blog and learn something new.
About Me and Myself
- Luca Kuhar
- Hey everyone. Ya'll know who I am but for those that don't weeeell....I'm just your average guy making a blog. I'll be posting a lot of stuff here such as random thoughts, topics that come to mind....I don't know....everything that comes to mind. Enjoy :)
Thalassemia
This is how the number of red blood cells look like in Thalassemia major
Thalassemia
Thalassemia is a blood disorder that causes the protein hemoglobin, which is responsible for carrying oxygen in red blood cells, to be made in a abnormal form. That results in excessive destruction of red blood cells and anemia.
The symptoms for the disorder are:
There are 2 types of thalassemia and each of them has a different cause. Those are Alpha Thalassemia and Beta Thalassemia. They are named like this because each of them is me of goblins (the Alpha and Beta globin).
The causes for the disorder are different:
- Thalassemia Alpha: occurs when genes related to the alpha globin are missing or changed/mutated
- Thalassemia Beta: occurs when similar gene defects affect the production of the Beta globin
Alpha Thalassemia affects commonly on southeast Asians, Chinese, other Asians and those of African descent.
Beta Thalassemia on the other hand usually affects those of Mediterranean origin, Chinese and other Asians and African Americans.
There are 2 forms (not types) of Thalassemia: Thalassemia major and Thalassemia minor.
Thalassemia minor is mostly means that a person is a carrier of the disease and doesn't show any symptoms.
Thalassemia Major on the other hand is when a person has the full disorder in him.
In order to inherit Thalassemia Major, you have to receive the trait from both parents. That means that both males and females can be affected, because we need both carriers for the disorder to occur.
The symptoms for the disorder are:
- Bone deformities in the face
- Fatigue
- Growth failure
- Liver and spleen swelling
- Shortness of breath
- Yellow skin
There are 2 types of treatment for this. One is constant blood transfusions, and the other is bone marrow transplant. Bone marrow transplant can help some patients treat the disease (especially children) but not everyone.
Also, those who do blood transfusion, must keep an eye on their diet in order to prevent too much iron from coming in their blood.
Females re the only carriers of the thalassemia trait.
Does thalassemia affect only males?
Thalassemia is widely spread in the white population of Europe.
Links that helped me get the information:
Hemophilia
Hemophilia is a genetic disorder, that causes different bleeding issues to a human body.
Most people with hemophilia can live normal lives except for common chronic bleeding and severe bleeding when bruised. Buts some cases can also die from severe bleeding that doesnt stop.
We have 2 levels of Hemophilia:
- Hemophilia A
- Hemophilia A
- Hemophilia B
Lets start with Hemophilia A:
Hemophilia A is a hereditary disorder that occurs when there is a lack of blood clothing in factor VIII.
Like color blindness, Hemophilia A is caused by an inherited X-linked recessive trait. It is most common in males since males have one X and one Y chromosome, and are not protected unlike females that have 2 X chromosomes and one can overshadow the other. If a woman is a carrier of a Hemophilia X chromosome, there is a 50% chance that their male children are going to have Hemophilia A.
The symptoms of Hemophilia A are:
- bleeding in to the joints with pain and steeling
- blood in urine or stool
- bruising
- gastrointestinal tract and urinary tract hemorrhage
prolonged bleeding from cuts, tooth extractions, and surgery
- spontaneous bleeding
Now lets continue with Hemophilia B:
Hemophilia B is similar or should i say almost the same a Hemophilia Although Hemophilia A is 7 times more common than Hemophilia B, it still happens but it only applies to females.
The symptoms are the same as in Hemophilia A.
It is caused (again) by a carrier chromosome X, but instead of having a broken factor VIII, it is caused by a deficiency of the clothing factor IX.
Hemophilia A occurs in about 1 in 5.000 - 10.000 male births, and hemophilia B at about 1 in 20.000 - 34.000 male births.
The easiest way to explain the cause of hemophilia is: With hemophilia, whenever you bleed you will have a hard time stooping the bleeding. It even causes internal bleeding, which can lead to swelling or worse.
The way to prevent this is to go to genetic counseling, or have a parental intrauterine diagnosis with termination of pregnancy as an option.
Hemophilia is treated by replacing the missing clotting factors.
Most people with hemophilia can live normal lives except for common chronic bleeding and severe bleeding when bruised. Buts some cases can also die from severe bleeding that doesnt stop.
What are the types of Hemophilia? (More than 1 answer)
Will you bleed to death if you are bruised and you are a hemophilia victim?
Does Hemophilia also affect females?
Does hemophilia ussualy make you die at young age?
Color blindness
Color blindness is a genetic disorder, where the person suffers from a loss of detecting color with his eyes.
Color blindness can currently not be treated.
The disorder occurs, when a person has a problem with the color sensing materials (also known as pigments) in certain nerve cells of the eye. The cells that get affected are called cones.
The most common type of color blindness is when people have trouble telling the difference between red and green colors. A similar type of color blindness that is also common is also having trouble with blue and yellow colors. People with that kind of color blindness usually have trouble with red and green colors too.
The worst kind of color blindness is called achromatopsia. It is the worst and most rare condition. A person with achromatopsia can not see any color at all (he basically sees black and white).
It is a genetic disorder that occurs on 3 occasions:
- hereditary (already present at birth); it is usually carried by the X chromosome, but it is more often passed donw on males than females
- a drug called hydroxy chloroquine (that is used to threat rheumatoid arthritis and other conditions)
- lasting effect of an eye infection or accident that wasn't cured fast enough or could not be cured without leaving after effects
About 1 out of 10 people (men) suffer from some form of color blindness and the symptoms are different depending on the person, but the 2 most common ones are:
- trouble seeing colors and the brightness of colors the way they are supposed to be seen
- trouble telling (or not being able to tell) the difference between shades of the same or similar colors
The problem with he disorder is that practically anyone can be affected by it (age and race). A lot of people get it by they time they get old, but you can also get it very young.
Even women are affected by it but it is very rare.
Color blindness can currently not be treated.
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