Hemoglobinopathy

A hemoglobinopathy is a group of inherited blood disorders in which hemoglobin, the protein in red blood cells responsible for transporting oxygen, has an altered structure or production. This can change the shape and function of the red blood cells and, over time, their ability to carry oxygen to the tissues.

Possible manifestations: tiredness, paleness, episodes of pain, jaundice, or various signs associated with anemia, with an intensity that varies greatly depending on the type of alteration inherited.

Origin: they are genetic conditions passed from parents to children; some people carry the variant without showing obvious symptoms and are only detected through testing.

Who to see? The hematologist is the professional who studies and follows up on these disorders. If there is a family history of inherited anemias or alterations are detected on blood tests, it is worth consulting for proper guidance.