hemoglobinopathy
Pronunciation: hee-moh-glow-bin-OP-ah-thee
Any inherited disorder affecting hemoglobin structure or production, screened for in newborns to detect conditions like sickle cell disease.
Full Definition
Hemoglobinopathies represent a diverse group of genetic disorders affecting either the structure (such as sickle cell disease) or production (such as thalassemias) of hemoglobin molecules. These conditions can range from asymptomatic carrier states to severe life-threatening diseases requiring lifelong management. Newborn screening programs use techniques like hemoglobin electrophoresis, high-performance liquid chromatography, or mass spectrometry to identify variant hemoglobins and quantify different hemoglobin types, enabling early intervention for clinically significant conditions.
Usage
Usage note: Note the spelling 'hemoglobinopathy' not 'haemoglobinopathy'. Use as umbrella term for all inherited hemoglobin disorders.
In Context
- "The laboratory's hemoglobinopathy screening panel detected an unusual variant requiring further characterization." — Laboratory report
- "Family history of hemoglobinopathy increases the importance of newborn screening results." — Genetic counseling note