Polymorphism of human haptoglobin and its clinical importance

Genetics and Molecular Biology

Vânia Peretti De Albuquerque Wobeto¹  Tânia Regina Zaccariotto¹  Maria De Fátima Sonati¹ 

[1] ,Universidade Estadual de Campinas Faculdade de Ciências Médicas Departamento de Patologia ClínicaCampinas SP ,Brazil

关键词: haptoglobin;    hemoglobin;    genetic polymorphisms;   

DOI  :  10.1590/S1415-47572008000400002

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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