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Hemoglobinopathy

Definition

Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is passed down through families (inherited). Hemoglobin carries oxygen in red blood cells.

This group of disorders includes hemoglobin C disease, hemoglobin S-C disease, sickle cell anemia, and thalassemias.

References

Howard J. Sickle cell disease and other hemoglobinopathies. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 149.

Smith-Whitley K, Kwiatkowski JL. Hemoglobinopathies. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 511.