Introduction:
What is thalassemia?
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of
hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia
is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the
disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
Thalassemia minor is a less serious form of the disorder. There are two main forms of
thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes
has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.
Each of these forms of thalassemia has different subtypes. The exact form you have will affect
the severity of your symptoms and your outlook.
What are the symptoms of thalassemia?
The symptoms of thalassemia can vary. Some of the most common ones include:
• bone deformities, especially in the face
• dark urine
• delayed growth and development
• excessive tiredness and fatigue
• yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up
later in childhood or adolescence.
, What causes thalassemia?
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in
hemoglobin production. You inherit this genetic defect from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease
known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a
carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a
more serious form of the disease.
According to the Centers for Disease Control and Prevention (CDC), thalassemia is most
common in people from Asia, the Middle East, Africa, and Mediterranean countries such as
Greece and Turkey.
What are the different types of thalassemia?
There are three main types of thalassemia (and four subtypes):
• beta thalassemia, which includes the subtypes major and intermedia
• alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
• thalassemia minor
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Beta thalassemia
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each
parent, are inherited to make beta globin. This type of thalassemia comes in two serious
subtypes: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin
genes are missing. The symptoms of thalassemia major generally appear before a child’s second
birthday.
What is thalassemia?
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of
hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia
is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the
disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
Thalassemia minor is a less serious form of the disorder. There are two main forms of
thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes
has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.
Each of these forms of thalassemia has different subtypes. The exact form you have will affect
the severity of your symptoms and your outlook.
What are the symptoms of thalassemia?
The symptoms of thalassemia can vary. Some of the most common ones include:
• bone deformities, especially in the face
• dark urine
• delayed growth and development
• excessive tiredness and fatigue
• yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up
later in childhood or adolescence.
, What causes thalassemia?
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in
hemoglobin production. You inherit this genetic defect from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease
known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a
carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a
more serious form of the disease.
According to the Centers for Disease Control and Prevention (CDC), thalassemia is most
common in people from Asia, the Middle East, Africa, and Mediterranean countries such as
Greece and Turkey.
What are the different types of thalassemia?
There are three main types of thalassemia (and four subtypes):
• beta thalassemia, which includes the subtypes major and intermedia
• alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
• thalassemia minor
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Beta thalassemia
Beta thalassemia occurs when your body can’t produce beta globin. Two genes, one from each
parent, are inherited to make beta globin. This type of thalassemia comes in two serious
subtypes: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin
genes are missing. The symptoms of thalassemia major generally appear before a child’s second
birthday.
