Intermediate
Technical
In the Industry Vocabulary Test
hemoglobinopathy
Pronunciation: hee-moh-GLOW-bin-op-uh-thee
Inherited disorders affecting hemoglobin structure or production, including sickle cell disease and thalassemias.
Full Definition
Hemoglobinopathies are genetic conditions affecting hemoglobin, the oxygen-carrying protein in red blood cells. These disorders include structural variants like sickle cell disease and quantitative abnormalities like thalassemias. Newborn screening uses electrophoresis or HPLC to identify abnormal hemoglobin patterns, enabling early intervention with prophylactic antibiotics, immunizations, and family education to prevent life-threatening complications such as bacterial infections and stroke.
Usage
Usage note: Distinguish between disease and trait states in clinical documentation.
In Context
- "Hemoglobinopathy screening identified HbS trait requiring genetic counseling for the family." — Hematology consultation
- "The laboratory confirmed hemoglobinopathy with hemoglobin electrophoresis showing HbSS pattern." — Diagnostic report
Also known as
hemoglobin disorder
sickle cell screening
Don't confuse with
hematologic malignancy
iron deficiency