Hemoglobinopathies are a heterogeneous group of inherited disorders resulting from mutations in the globin genes. Transmission is autosomal. There are 2 main types of hemoglobinopathies, one of which comprises disorders of decreased or absent production of a globin gene. These disorders are known as thalassemias. Structural abnormalities resulting from single amino acid substitutions comprise the second group of hemoglobinopathies. Although delineated by quantitative and qualitative characteristics, they are not mutually exclusive. Thalassemias can have qualitative defects, whereas other structural abnormalities may have quantitative defects. Collectively, they are one of the most common causes of nonimmune hemolytic anemias with various frequencies distributed throughout the world.
Hemoglobinopathies in the Neonate
Dr Nguyen has disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
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Trinh Nguyen; Hemoglobinopathies in the Neonate. Neoreviews May 2015; 16 (5): e278–e286. https://doi.org/10.1542/neo.16-5-e278
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