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Unstable hemoglobin variants

Martin H Steinberg, MD
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD


Some mutations of globin genes decrease the solubility of the molecule in the red cell. Substitutions in the primary sequence of globin in these unstable hemoglobins can alter the tertiary or quaternary structure of the molecule and result in a globin polypeptide/hemoglobin tetramer that is unstable and precipitates intracellularly. These intraerythrocytic precipitates are detectable with the aid of supravital staining as dark globular aggregates called Heinz bodies (picture 1). The affected red cells have a reduced life span, producing a hemolytic syndrome of varied severity called the congenital Heinz body hemolytic anemia syndrome.

This topic reviews the evaluation and management of unstable hemoglobins (hemoglobin mutations associated with the Heinz body hemolytic anemia syndrome).

Separate topic reviews discuss other causes of hemolytic anemia associated with Heinz body formation and general approaches to the evaluation of patients with hemolytic anemia:

G6PD deficiency – (See "Diagnosis and management of glucose-6-phosphate dehydrogenase deficiency".)

Thalassemia – (See "Clinical manifestations and diagnosis of the thalassemias", section on 'Red blood cells'.)


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Literature review current through: Sep 2016. | This topic last updated: Feb 19, 2016.
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