Cin, ?ükrüTaylor & FrancisPediatr Hematol OncolUysal Z, Yildirmak Y, Akar N, Basak N and Cin S: Alpha‑Thalassemia and hereditary spherocytosis in the same patient: The interaction of two diseases. Pediatr Hematol Oncol 15: 271‑276, 1998....
Hereditary spherocytosis is a common inherited type of hemolytic anemia that results from abnormal morphology of erythrocytes. It has a high occurrence in North Americans and northern Europeans with a prevalence of 1/2000. There is a wide range in age and symptoms at presentation with some individu...
Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic ...
In contrast, the EVs from hereditary spherocytosis patients are significantly softer. This suggests a neutral effect for (membrane) proteins in donor EVs, whereas the different protein composition of patient EVs results in a lower bending modulus. The low rigidity of patient EVs fits with the ...
RBC vesiculation is also relevant in blood disorders, for example in hereditary spherocytosis (HS). HS is one of the most common hereditary RBC disorders in the western world and is accompanied by increased release of EVs. This vesiculation is caused by a reduced linkage between the membrane ...
The underlying hereditary hemolytic anemia was sickle cell disease (SS) in 20, hemoglobin SC disease (SC) in 4, sickle-beta-thalassemia (S-thal) in 1, and hereditary spherocytosis (HS) in 1 patient. The patient with HS was white; the other 25 were black. Symptoms of illness. All patie...
Hereditary spherocytosis (HS) is the commonest inherited red cell membrane disorder seen in clinical practice. Modern hematology analyzers generate newer parameters that can help in screening of HS. The present study focuses on the utility of red blood cell data generated by Advia-120 hematology ana...
The patient had neonatal hyper- bilirubinemia and was diagnosed with HS at 3 months of age. The diagnosis was made based on spherocytosis seen in a peripheral blood smear. His mother had received a cholecystectomy and splenectomy roughly 30 years before without knowing the rea...
Mutations affecting the conversion of spectrin dimers to tetramers result in hereditary elliptocytosis (HE), whereas a deficiency of human erythroid α- or β-spectrin results in hereditary spherocytosis (HS). All spontaneous mutant mice with cytoskeletal deficiencies of spectrin reported to date have...
Advances in laboratory diagnosis of hereditary spherocytosis Analytical performance specifications for external quality assessment – definitions and descriptions Genetics and Molecular Diagnostics Differences between quantification of genotype 3 hepatitis C virus RNA by Versions 1.0 and 2.0 of the COBAS Amp...