Intermediate
Technical
IVT
hemoglobinopathy
Pronunciation: HEE-moh-glow-bin-OP-ah-thee
Inherited disorder affecting hemoglobin structure or production, including sickle cell disease and thalassemia.
Full Definition
A group of genetic disorders characterized by abnormalities in the structure, function, or production of hemoglobin. These conditions are among the most common inherited disorders worldwide and include sickle cell disease, thalassemia, and various hemoglobin variants. In pediatric hematology, hemoglobinopathies often present in early childhood and require specialized management including regular monitoring, transfusion protocols, and iron chelation therapy.
Usage
Usage note: Distinguish from coagulopathy, which affects blood clotting rather than hemoglobin.
In Context
- "Newborn screening identified a hemoglobinopathy requiring immediate hematology consultation." — Pediatric discharge summary
- "The patient's hemoglobinopathy was managed with regular transfusions and chelation therapy." — Treatment plan
Also known as
hemoglobin disorder
hemoglobin variant
Contrasted with
normal hemoglobin
Don't confuse with
coagulopathy
enzymopathy