Haptoglobin polymorphisms and their relationship to the activities of liver function enzymes in sickle cell anemia and hepatitis C patients

The importance of the research lies in the fact that it aims to study the genetic polymorphisms of the haptoglobin (Hp) gene in patients with sickle cell anemia, hepatitis C, and sickle cell anemia with hepatitis C, as well as to study the relationship between the polymorphisms of the gene and the liver enzymes (alkaline phosphatase, aspartate aminotransferase, and alanine transaminase). Hp is a type of alpha-2 globulin found in human plasma. Its primary function is to bind to the globin portion of free hemoglobin in the bloodstream. Objectives: Determining the genotypes of the Hp gene in patients with sickle cell anemia and hepatitis C using allele-specific polymerase chain reaction and studying the relationship between genetic polymorphisms and increased liver enzymes (alkaline phosphatase, alanine aminotransferase, and aspartate aminotransferase). This study included 130 participants. They were classified to 4 groups: patients with sickle cell anemia (n = 40), patients with hepatitis C (n = 40), sickle cell patients with hepatitis C (n = 10), and a control group (n = 40). DNA was isolated and polymerase chain reaction was performed using genotype-specific primers for the three regions of the Hp gene. The genotypes were determined after electrophoresis on agarose gel and determination of the amplified fraction of each allele. Alkaline phosphatase, alanine aminotransferase, and aspartate aminotransferase levels were measured by colorimetric methods. The results showed that the Hp2-2 genotype was more frequent in all three patient groups than the Hp1-1 or Hp2-1 genotypes. The liver enzyme levels were also significantly higher in the Hp2-2 genotype group than in the other two groups. Hp2-2 was the most prevalent Hp phenotype among the patient groups and it may play a role in the pathogenesis of sickle cell anemia and hepatitis C. The study was approved by the Research Committee of the Thi-Qar Institutional Health Department in 2022.