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Traditional laboratory measures of cardiovascular risk in hereditary spherocytosis.

ABSTRACT: Individuals who have undergone splenectomy may be at an increased risk of arterial and venous thrombosis. We sought to determine if splenectomy affects surrogate laboratory measures of cardiovascular risk in persons with hereditary spherocytosis (HS).We conducted a prospective cross-sectional study of 21 children and 36 adults with HS. Fasting blood samples were collected for complete blood count and plasma lipid panel, homocysteine, lipoprotein (a), C-reactive protein, and fibrinogen. The variables were compared between the groups with and without prior splenectomy by Mann-Whitney tests.Subjects with prior splenectomy had higher hemoglobin, white blood cell and platelet counts and lower reticulocyte counts and total serum bilirubin concentrations (P < 0.001). Subjects not having had splenectomy had lower than normal levels of total and LDL-cholesterol (LDL-C). Total and LDL-C values were significantly higher, as were fibrinogen and homocysteine concentrations, in the post-splenectomy subjects than in individuals with intact spleen.Various lipid levels and other measures of cardiovascular risk are affected by splenectomy in persons with HS. Further investigations are indicated to more clearly define the balance of the potential benefits of hemolysis and anemia versus the deleterious effects of splenectomy in HS.

SUBMITTER: Crary SE

PROVIDER: S-EPMC3084152 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature

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Traditional laboratory measures of cardiovascular risk in hereditary spherocytosis.

Crary Shelley E SE Troendle Sarah S Ahmad Naveed N Buchanan George R GR

Pediatric blood & cancer 20101001 4

<h4>Background</h4>Individuals who have undergone splenectomy may be at an increased risk of arterial and venous thrombosis. We sought to determine if splenectomy affects surrogate laboratory measures of cardiovascular risk in persons with hereditary spherocytosis (HS).<h4>Procedure</h4>We conducted a prospective cross-sectional study of 21 children and 36 adults with HS. Fasting blood samples were collected for complete blood count and plasma lipid panel, homocysteine, lipoprotein (a), C-reacti ...[more]

PMID: 20589636

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Project description:Hereditary spherocytosis (HS) is the most common red blood cell (RBC) membrane disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and α (SPTA1) or β-spectrin (SPTB). Severe recessive HS is most commonly due to biallelic SPTA1 mutations. α-spectrin is produced in excess in normal erythroid cells, therefore SPTA1-associated HS ensues with mutations causing significant decrease of normal protein expression from both alleles. In this study, we systematically compared genetic, rheological, and protein expression data to the varying clinical presentation in eleven patients with SPTA1-associated HS. The phenotype of HS in this group of patients ranged from moderately severe to severe transfusion-dependent anemia and up to hydrops fetalis which is typically fatal if transfusions are not initiated before term delivery. The pathogenicity of the mutations could be corroborated by reduced SPTA1 mRNA expression in the patients' reticulocytes. The disease severity correlated to the level of α-spectrin protein in their RBC cytoskeleton but was also affected by other factors. Patients carrying the low expression αLEPRA allele in trans to a null SPTA1 mutation were not all transfusion dependent and their anemia improved or resolved with partial or total splenectomy, respectively. In contrast, patients with near-complete or complete α-spectrin deficiency have a history of having been salvaged from fatal hydrops fetalis, either because they were born prematurely and started transfusions early or because they had intrauterine transfusions. They have suboptimal reticulocytosis or reticulocytopenia and remain transfusion dependent even after splenectomy; these patients require either lifetime transfusions and iron chelation or stem cell transplant. Comprehensive genetic and phenotypic evaluation is critical to provide accurate diagnosis in patients with SPTA1-associated HS and guide toward appropriate management.

Project description:BackgroundThe laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5'-maleimide-binding test) has been proposed. None of the available tests identifies all cases of hereditary spherocytosis.Design and methodsWe compared the performances of the eosin-5'-maleimide-binding test, NaCl-osmotic fragility studies on fresh and incubated blood, the glycerol lysis test, the acidified glycerol lysis test, and the Pink test on a series of 150 patients with hereditary spherocytosis grouped according to clinical phenotype and the defective protein, with the final aim of finding the combination of tests associated with the highest diagnostic power, even in the mildest cases of hereditary spherocytosis.ResultsThe eosin-5'-maleimide-binding test had a sensitivity of 93% and a specificity of 98% for detecting hereditary spherocytosis: the sensitivity was independent of the type and amount of molecular defect and of the clinical phenotype. The acidified glycerol lysis test and Pink test showed comparable sensitivity (95% and 91%). The sensitivity of NaCl osmotic fragility tests, commonly considered the gold standard for the diagnosis of hereditary spherocytosis, was 68% on fresh blood and 81% on incubated blood, and further decreased in compensated cases (53% and 64%, respectively). The combination of the eosin-5'-maleimide-binding test and acidified glycerol lysis test enabled all patients with hereditary spherocytosis to be identified. The eosin-5'-maleimide-binding test showed the greatest disease specificity.ConclusionsEach type of test fails to diagnose some cases of hereditary spherocytosis. The association of an eosin-5'-maleimide-binding test and an acidified glycerol lysis test enabled identification of all patients with hereditary spherocytosis in this series and, therefore, represents a currently effective diagnostic strategy for hereditary spherocytosis including mild/compensated cases.

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Traditional laboratory measures of cardiovascular risk in hereditary spherocytosis.

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Traditional laboratory measures of cardiovascular risk in hereditary spherocytosis.

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