Varianti instabili dell’emoglobina: una sfida per il Laboratorio?
Unstable hemoglobin variants: a challenge for the laboratory?

AUTORI

ABSTRACT

Unstable hemoglobin variants: a challenge for the laboratory?

The unstable variants represent a subset of rare or very rare defects in the heterogeneous area of hemoglobinopathies; however they constitute a very important group of variants for the related clinical aspects. They exhibit a variety of manifestations that are characterized in many cases by more or less important hemolytic anemias able to attract the attention of clinicians. Actually, the signs produced by the reduced survival of erythrocytes in an adult or often in a child, can have different origins, being the consequence of an alteration of the structure of the erythrocyte membrane, produced by enzymatic or other defects. More than 150 hemoglobin variants, because of their in vitro and/or in vivo behavior, are generically classified as unstable and can potentially produce hemolytic anemia in various conditions and forms. Generally, a single amino acid substitution can produce an alteration in the primary structure of hemoglobin that promotes the formation of insoluble precipitates within the red blood cells and thus a hemolytic effect. For these particular diseases, the role of the laboratory is essential to differentiate and characterize the causes of the hemolytic anemias. The laboratory contributes to the diagnosis at different levels utilizing continuously evolving methodologies, while m

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