Hemoglobinopathies are a group of common inherited disorders of hemoglobin (Hb) which can be broadly categorized into quantitative disorders (which involve imbalance in the number of globin chains) and qualitative disorders (which result in structural Hb changes). Quantitative globin defects result in thalassemias. Qualitative defects may be benign (clinically and hematologically insignificant) or may be associated with sickle cell disease, hemoglobin instability, or changes in oxygen affinity (as in methemoglobinemia). Identification of the underlying pathogenic Hb variant(s) that leads to hemoglobinopathy is important in treatment and genetic counseling. Universal newborn screening panels include testing for sickle cell anemia, the most common hemoglobinopathy; other hemoglobinopathies may not be identified until later in life. Laboratory testing is also used in diagnosis and monitoring.    

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Content Review: 
August 2019

Last Update: November 2019