//

Category

Thalassemia: Everything You Need to Know

Thalassemia is an inherited blood condition. When you have it, your body has fewer red blood cells and less of a protein called hemoglobin than it should. Hemoglobin is important because it lets your red blood cells carry oxygen to all parts of your body.

What Is Thalassemia?

Thalassemia is an inherited blood condition. When you have it, your body has fewer red blood cells and less of a protein called hemoglobin than it should. Hemoglobin is important because it lets your red blood cells carry oxygen to all parts of your body. Because of this, people with this condition may have anemia, which is when you have too few healthy red blood cells.

There are several names for various types of thalassemia. Some you might hear include:

  • Alpha thalassemia
  • Beta thalassemia
  • Constant spring
  • Cooley's anemia
  • Hemoglobin Bart's hydrops fetalis
  • Mediterranean anemia

Thalassemia Causes and Risk Factors

You get thalassemia when you inherit changes (mutations) in certain genes from your parents. These genes control your body's production of the two proteins that make up hemoglobin, called alpha globin and beta globin. Six genes, three from each parent, are responsible for these two proteins. Scientists have identified more than 200 gene variations that can cause thalassemia.

If you get a variant gene from just one parent, you may have mild symptoms or none at all. If you inherit two or more copies of abnormal genes from your parents, you may get mild to severe thalassemia, depending on which type of protein is affected.

The condition is more common in people with ancestry from Asia, Africa, the Middle East, and Mediterranean countries like Greece or Turkey.

Thalassemia Types

Thalassemia is a group of blood problems, not just one. The two types are:

  • Alpha thalassemia, which happens when one or more genes for the alpha globin protein are missing or mutated
  • Beta thalassemia, which happens when one or more genes for the beta globin protein are missing or mutated

Both types include different subcategories. For alpha thalassemia, the more gene mutations you got from your parents, the more serious your condition is. For beta thalassemia, the part of the hemoglobin molecule that's affected determines how serious your condition will be.

Alpha thalassemia

Four genes are responsible for making the alpha protein. You get two from each parent. Subtypes of alpha thalassemia include:

  • Alpha thalassemia minima, which is when you have one missing or mutated gene. You may pass this gene to your children as a carrier, but you won't have symptoms.
  • Alpha thalassemia minor, when you have two missing or mutated genes. You might have mild symptoms or none at all.
  • Hemoglobin H disease, when you have three missing or mutated genes. This causes symptoms that are moderate to severe.
  • Alpha thalassemia major (hydrops fetalis with Hemoglobin Barts), which is a rare condition in which all four genes are missing or mutated. Most babies with this condition are stillborn or die soon after birth. But some can be treated by having blood transfusions throughout their lives.