Genetics and Molecular Biology
versão On-line ISSN 1678-4685
WOBETO, Vânia Peretti de Albuquerque; ZACCARIOTTO, Tânia Regina e SONATI, Maria de Fátima. Polymorphism of human haptoglobin and its clinical importance. Genet. Mol. Biol. [online]. 2008, vol.31, n.3, pp.602-620. ISSN 1678-4685. http://dx.doi.org/10.1590/S1415-47572008000400002.
Haptoglobin (Hp) is a plasma glycoprotein, the main biological function of which is to bind free hemoglobin (Hb) and prevent the loss of iron and subsequent kidney damage following intravascular hemolysis. Haptoglobin is also a positive acute-phase protein with immunomodulatory properties. In humans, the HP locus is polymorphic, with two codominant alleles (HP1 and HP2) that yield three distinct genotypes/phenotypes (Hp1-1, Hp2-1 and Hp2-2). The corresponding proteins have structural and functional differences that may influence the susceptibility and/or outcome in several diseases. This article summarizes the available data on the structure and functions of Hp and the possible effects of Hp polymorphism in a number of important human disorders.
Palavras-chave : haptoglobin; hemoglobin; genetic polymorphisms.