Influence of Haptoglobin Polymorphism on Stroke in Sickle Cell Disease Patients

This review outlines the current clinical research investigating how the haptoglobin (Hp) genetic polymorphism and stroke occurrence are implicated in sickle cell disease (SCD) pathophysiology. Hp is a blood serum glycoprotein responsible for binding and removing toxic free hemoglobin from the vasculature. The role of Hp in patients with SCD is critical in combating blood toxicity, inflammation, oxidative stress, and even stroke. Ischemic stroke occurs when a blocked vessel decreases oxygen delivery in the blood to cerebral tissue and is commonly associated with SCD. Due to the malformed red blood cells of sickle hemoglobin S, blockage of blood flow is much more prevalent in patients with SCD. This review is the first to evaluate the role of the Hp polymorphism in the incidence of stroke in patients with SCD. Overall, the data compiled in this review suggest that further studies should be conducted to reveal and evaluate potential clinical advancements for gene therapy and Hp infusions.

The Role of Haptoglobin Polymorphism in Cardiovascular Disease in the Setting of Diabetes

Atherosclerotic cardiovascular disease (CVD) is the major cause of morbidity and mortality in individuals with diabetes mellitus (DM). Preclinical models have suggested that excessive oxidative stress and hyperglycemia are directly responsible for this pathological association. However, numerous clinical trials involving the administration of high doses of the antioxidant vitamin E or attempts at strict glycemic control have failed to show a significant reduction of CVD in DM patients. We describe here a possible explanation for the failure of these trials, that being their lack of proper patient selection. The haptoglobin (Hp) genotype is a major determinant of the risk of CVD in the setting of DM. Treatment of individuals with the high-risk Hp genotype with antioxidants or aggressive glycemic control has shown benefit in several small studies. These studies suggest a precision medicine-based approach to preventing diabetes complications. This approach would have a profound effect on the costs of diabetes care and could dramatically reduce morbidity from diabetes.

HAPTOGLOBIN POLYMORPHISM AND CHRONIC TENDINOPATHY

Introduction: Tendinopathy is a pathology of tendons of multifactorial origin displayed clinically as chronic degenerative tissue resulting in dysfunction and painful musculoskeletal system. Genetic implications in tendinopathy are not fully elucidated. Haptoglobin (Hp) polymorphism has been investigated for potential role in several diseases such as cardiovascular diseases. This study aims at investigating Hp polymorphism potential association with chronic tendinopathy in Jordan. Materials and Methods: A hospital-based case-control study, of 101 patients diagnosed with chronic tendinopathy and 104 age and gender matched controls, was employed and Hpphenotypes distributions were determined using Sodium Dodecyl Sulphate Polyacrylamide gel electrophoresis technique. Results: showed a significant association between tendinopathy cases and controls in relation to Hpphenotypes frequencies (Fisher’s Exact Test, [Formula: see text]). Odd ratios showed that the odds of tendinopathy cases in Hp2.1 group were reduced while odds in Hp2.2 and Hp1.1 were increased by 3.22 and 7.34 times, respectively, as likely compared to the controls. Conclusion: Results suggested that Hppolymorphism might play a role in chronic tendinopathy genesis.