Genetic Disease of Thalassemia 1

Genetic Diseases (Thalassemia)

Tala Manaf

AME School

Human Geography

MR Hani & MRS Haya

October, 27, 2023

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What are Genetic Diseases? Genetic Diseases are diseases that are inherited by parents who are

carried to that disease or in other words, It is health problems caused by one or more abnormalities in

the genome that are caused by mutations in one or multiple genes or by chromosomal abnormalities.

There are several types of genetic disorders. Thalassemia is one of several genetic disorders.

Thalassemia is a blood disorder passed through families when the body does not produce enough or

makes less of protein in blood called haemoglobin, this disorder can be treated by blood transactions.

When there isn’t enough haemoglobin that results in

malfunction in red blood cells and will not work properly.

Since Red Blood Cells carry oxygen through the

bloodstream when that malfunctions not enough oxygen

will be used which may cause the person who suffers from

this disorder to feel tired, weak or have shortness of breath.

That is what is diagnosed to be anaemia, people who have

Thalassemia may cause them to have mild or severe anaemia, severe anaemia can damage organs and

lead to death. There are types of thalassemia Alpha and Beta for each one of them they derive into

four other types, Alpha thalassemia that has subtypes of Haemoglobin H and Hydrops fetalis, it

occurs when genes related to the alpha globin protein are missing or mutated, If one gene is missing

or damaged that causes your red blood cells to be smaller than normal. It will not show nor have any

symptoms and nor will you need any treatment. If two genes are missing or damaged, you will have

very mild anaemia but it also does not require any treatments. This is called alpha thalassemia minor

or alpha thalassemia trait. If three genes are missing: You will have mild severe anaemia. And that is

referred to as haemoglobin H disease. If it is severe, you may need blood transfusions. , while a

person with thalassemia major may have severe symptoms and need regular blood transactions.

Another type of thalassemia is beta thalassemia that has subtypes of major and intermedia which are

only other words to describe what level of diseases the person has. when similar genes defects and

affects the production of beta globin protein. You need both alpha and beta globin to make

haemoglobin If you have one damaged gene that may cause mild anaemia and you will not need any
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treatment. It occurs when one parent gives you a normal gene and the other parent gives you a

thalassemia gene. If you have damage to both genes, you have inherited a thalassemia gene from both

of your parents. Other symptoms of thalassemia besides feeling tired or having a shortness of breath is

fatigue, pale skin bone deformities and dark urine. Thalassemia mostly occurs in Asia, Middle East,

Africa and Mediterranean countries. Briefly you could have thalassemia and not have any symptoms

at all or you could have mild anaemia and need treatment. Since Thalassemia is inherited which

means you can not prevent that disorder from happening but it could be managed in order for

complications to not occur, for example a healthy food chain or a diet and not eating food that contain

high iron because it can lead to be life threatening complexities and doing light workouts and

exercises since heavy exercises can make your symptoms worse. Thalassemia could shorten your life

expectancy if left untreated. How can you treat Thalassemia?

Thalassemia can be treated but not cured so you would have to do these treatments from time to time

to maintain the disease, it can be treated by blood transfusion, iron chelation therapy, blood or bone

marrow transplant and with splenectomy which is a surgery that would require the spleen to be

removed but this procedure lowers the body's ability to fight infections. In conclusion, Thalassemia is

loss of red blood cells that may lead and cause other serious severe diseases and can only be treated or

minimise its symptoms by having a healthy diet, taking pills or undergo dangerous procedures.
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Resources:

(Thalassemia - Treatment, 2022)

(Weatherspoon & Underwood, n.d.)

(Alpha Thalassemia, n.d.)

(What Is Thalassemia? - What Is Thalassemia?, n.d.)

(Thalassemia - Symptoms & Causes, n.d.)

(Thalassaemia | Healthdirect, n.d.)