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Thalassemia
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Thalassemia is a blood disorder that is inherited: it passes from parents to children through the genes, the instructions the body uses to make its proteins. And it is not a single disease: there are two main types, alpha thalassemia and beta thalassemia.
What goes wrong in both is hemoglobin, the protein that helps red blood cells carry oxygen. In thalassemia the body may not make enough hemoglobin, and that can leave the body with fewer healthy red blood cells, which in turn can lead to a condition called anemia.
With beta thalassemia, the problem is pinned down more precisely. It is caused by variants, also called mutations, in a gene called HBB. That gene holds the instructions for making beta-globin, one of the subunits, or pieces, that hemoglobin is built from. If the instructions for that piece are altered, the same result can follow: too little hemoglobin. It is a recipe missing an ingredient: the cake still turns out, but it does not turn out the same.
In brief
Thalassemia is an inherited blood disorder, meaning it passes from parents to children through the genes; there are two main types, alpha thalassemia and beta thalassemia.
In thalassemia, the body may not make enough hemoglobin, the protein that helps red blood cells carry oxygen, and that can leave the body with fewer healthy red blood cells, which can lead to anemia.
Beta thalassemia is caused by variants in the HBB gene, which provides the instructions for making beta-globin, a subunit of hemoglobin.
Sources (2)
- National Heart, Lung, and Blood InstituteThalassemia: What Is Thalassemia?Published
- MedlinePlus GeneticsBeta thalassemia. MedlinePlus Genetics
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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