Thalassemia
Thalassemia is a genetic blood disorder in which the body produces either abnormal hemoglobin or insufficient amounts of it. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body.
Types of Thalassemia
There are two types of thalassemia
Alpha thalassemia:
Defect in the gene related to the alpha globulin protein chain.
- Alpha Thalassemia minima
- Alpha Thalassemia minor
- Hemoglobin H disease
- Hydrops fetalis with Hemoglobin Barts
Beta thalassemia:
Defect in beta-globin genes.
- Beta thalassemia minor
- Beta thalassemia major or Cooley’s anemia.
Thalassemia Risk Factors
The following factors may increase blood cancer risk, including:
Family history:
Thalassemia is an inherited genetic condition
Certain ancestry:
Certain parts of the world have a higher risk of having thalassemia
Symptoms of Thalassemia
The most severe type of alpha thalassemia, known as alpha thalassemia major, often results in stillbirth, which is the death of an unborn baby during late pregnancy or at birth.
Children with beta thalassemia major (Cooley's anemia) appear healthy at birth but usually develop severe anemia within their first year.
Common symptoms may include:
- Facial bone deformities
- Fatigue
- Poor growth
- Shortness of breath
- Yellowing of the skin (jaundice)
- Low RBCs in thalassemia lead to anemia.
Individuals with the minor form of either alpha or beta thalassemia usually have smaller red blood cells but do not experience symptoms.