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Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA. Niss O, et al. Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17. Blood Cells Mol Dis. 2016. PMID: 27667160 Free PMC article.
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding alpha-spectrin (SPTA1), beta-spectrin (SPTB), or protein 4.1R (EPB41). ...
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane …
Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Agarwal AM, McMurty V, Clayton AL, Bolia A, Reading NS, Mani C, Patel JL, Rets A. Agarwal AM, et al. Eur J Haematol. 2023 Jun;110(6):688-695. doi: 10.1111/ejh.13951. Epub 2023 Mar 8. Eur J Haematol. 2023. PMID: 36825813
INTRODUCTION: Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell (RBC) cytoskeleton, RBC enzyme deficiencies, and hemoglobin (Hb) synthesis disorders such as thalassemia or sideroblastic anemia. ...Complex …
INTRODUCTION: Hereditary hemolytic anemias (HHA) comprise a heterogeneous group of disorders resulting from defective red blood cell …
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis.
King MJ, Telfer P, MacKinnon H, Langabeer L, McMahon C, Darbyshire P, Dhermy D. King MJ, et al. Cytometry B Clin Cytom. 2008 Jul;74(4):244-50. doi: 10.1002/cyto.b.20413. Cytometry B Clin Cytom. 2008. PMID: 18454487 Free article.
BACKGROUND: Flow cytometric analysis of eosin-5-maleimide (EMA)-labeled red blood cells (RBCs) has been used as a screening test for the diagnosis of patients with hereditary spherocytosis (HS). We assessed the fluorescence profiles for patients having HS and hereditary …
BACKGROUND: Flow cytometric analysis of eosin-5-maleimide (EMA)-labeled red blood cells (RBCs) has been used as a screening test for the dia …