Evaluation of Alpha-1 Antitrypsin Levels and SERPINA1 Gene Polymorphisms in Sickle Cell Disease.

Alpha-1 antitrypsin (AAT) is an inhibitor of neutrophil elastase and a member of the serine proteinase inhibitor (serpin) superfamily, and little is known about its activity in sickle cell disease (SCD). We hypothesize that AAT may undergo changes in SCD because of the high oxidative stress and inflammation associated with the disease. We have found high AAT levels in SCD patients compared to controls, while mutant genotypes of SERPINA1 gene had decreased AAT levels, in both groups. AAT showed negative correlation with red blood cells, hemoglobin (Hb), hematocrit, high-density lipoprotein cholesterol, urea, creatinine, and albumin and was positively correlated with mean corpuscular Hb concentration, white blood cells, neutrophils, Hb S, bilirubin, lactate dehydrogenase, ferritin, and C-reactive protein. Patients with higher levels of AAT had more infection episodes (OR = 1.71, CI: 1.05-2.65, p = 0.02), gallstones (OR = 1.75, CI: 1.03-2.97, p = 0.02), and had more blood transfusions (OR = 2.35, CI: 1.51-3.65, p = 0.0001). Our data on AAT association with laboratory indices of hemolysis and inflammation suggest that it may be positively associated with SCD severity; the negative correlations with renal parameters suggest a cytoprotective mechanism in SCD patients. In summary, AAT may need to be included in studies related to SCD and in the discussion of further therapeutic strategies.

Sickle cell disease retinopathy: characterization among pediatric and teenage patients from northeastern Brazil.

OBJECTIVE: The aim of the present study was to characterize sickle cell disease retinopathy in children and teenagers from Bahia, the state in northeastern Brazil with the highest incidence and prevalence of sickle cell disease. METHODS: A group of 51 sickle cell disease patients (36 hemoglobin SS and 15 hemoglobin SC) with ages ranging from 4 to 18 years was studied. Ophthalmological examinations were performed in all patients. Moreover, a fluorescein angiography was also performed in over 10-year-old patients. RESULTS: The most common ocular lesions were vascular tortuosity, which was found in nine (25%) hemoglobin SS patients, and black sunburst, in three (20%) hemoglobin SC patients. Peripheral arterial closure was observed in five (13.9%) hemoglobin SS patients and in three (13.3%) hemoglobin SC patients. Arteriovenous anastomoses were present in six (16.5%) hemoglobin SS patients and six (37.5%) hemoglobin SC patients. Neovascularization was not identified in any of the patients. CONCLUSIONS: This study supports the use of early ophthalmological examinations in young sickle cell disease patients to prevent the progression of retinopathy to severe disease and further blindness.