Thalassemia is a group of genetic blood disorders that affect the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with thalassemia have a problem with the production of either the alpha or beta globin chains of hemoglobin, which can cause anemia, fatigue, and other complications.
There are two main types of thalassemia:
- Alpha thalassemia: This type of thalassemia occurs when one or more of the alpha globin genes are missing or mutated. Alpha thalassemia can be mild or severe depending on the number of missing or mutated genes. Severe alpha thalassemia can cause fetal hydrops, a condition in which fluid accumulates in the fetus’s body, leading to stillbirth or early death after birth.
- Beta thalassemia: This type of thalassemia occurs when one or both of the beta globin genes are missing or mutated. Beta thalassemia can also be mild or severe depending on the number of missing or mutated genes. Severe beta thalassemia is also known as thalassemia major, and people with this condition require lifelong blood transfusions to survive.
Thalassemia is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. If a person inherits only one copy of the mutated gene, they are said to be a carrier of the condition and may not have any symptoms.
The effects of thalassemia can vary depending on the type and severity of the condition. Common symptoms of thalassemia include:
- Anemia (low red blood cell count)
- Fatigue
- Weakness
- Pale skin
- Delayed growth and development
- Enlarged spleen
- Bone deformities
- Abdominal swelling
- Jaundice (yellowing of the skin and eyes)
- Heart problems (in severe cases)
Treatment for thalassemia may include blood transfusions, bone marrow transplants, and medication to manage symptoms. People with thalassemia may also need to make lifestyle changes, such as eating a healthy diet and avoiding certain medications that can worsen their condition.