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ABSTRACT: Introduction: Hereditary spherocytosis (HS) common type of anemia characterized by the weakening of the vertical links between the cytoskeleton and the lipid bilayer of erythrocyte. Main symptoms are anemia with reticulocytosis, splenomegaly and jaundice. ABX HORIBA Pentra analysers employ Thiazole Orange technology to reticulocyte count (RET#) and via “RET channel” differentiate 4 sub-populations: RETL Low fluorescence, low RNA content; RETM Medium fluorescence, variable RNA content; RETH High fluorescence, high RNA content and IMM Immature reticulocytes/erythroblastic (NRBC) population (DNA). Immature Reticulocyte Fraction (IRF) = (RETH#+RETM#+IMM#)/RET#. One of the characteristics of HS hemolysis is an increase RET#, but not a rise in the IRF. IRF don’t represent the same thing in the different analyzers in use, so we need to take care for having the appropriate value for each analyzer. Aim: Develop easy to use diagnostic tool for screening HS based on hematological parameters used in our routine analyzer ABX HORIBA Pentra DX 120, like the reticulocyte counts and the immature reticulocytes fraction. Methods: Peripheral blood samples (n=150) processed on EDTAK3 in analyzer Pentra DX 120, levels of RET# and IRF determined from a cohort of 25 confirmed HS. Population divided in groups: Autoimmune hemolytic anemia(AIHA) = 15; iron deficiency anemia (IDA) = 30; Intermedia Beta Thalassemia (IBThal) =8; Cord blood samples (CB) = 30; healthy subjects (control) =42 and then compared with HS group. Statistical analysis, of RET#, IRF, RETH#, RETM#, IMM# and ROC curve analysis, for the sensitivity, specificity values, using GraphPad Prism 5. Results: Median for each group: Control (RET#:48.5; RETH# 1.7; RETM# 7.5; IMM# 0.03); AIHA (RET# 220; RETH#1.2; RETM#; IMM# 0.01); IDA (RET# 50;RETH# 2.1; RETM# 8.3; IMM# 0.03) HS (RET#299; RETH# 0.7; RETM# 5.8; IMM# 0.04); IBthal (RET# 215;RETH# 11.2; RETM# 22.6; IMM# 0.79); CB (RET#: 187; RETH# 7.5; RETM# 20.35; IMM# 0.1) . ROC curve analysis: sensitivity 100% and 90.91% specificity for RET#/IRF > 10 to HS. Conclusions: Has waiting result HS had high RET# count (median=299) without a matching elevated IRF (median=12.8). RET#/IRF cut-off was >10 with excellent sensitivity and specificity. Observed increased IMM in the IBThal group due to increased NRBC. Despite increased IMM the RET in the cord blood is shortened. This simple and fast screening method could be used like a rule for trial HS using the HORIBA ABX Poster Presentation Abstracts 67 © 2014 The Authors Journal Compilation © 2014 Blackwell Publishing Ltd, Int. Jnl. Lab. Hem. 2014 36 (Suppl. 1) 1-136 PENTRA Hematological instruments. However the HS diagnostic still have to be confirmed by more sensitive and accurate tests such as cryohemolysis, eosin-5’-maleimide (EMA) binding test and membrane proteins electrophoresis.
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ABSTRACT: We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity. © 2013 Wiley Periodicals, Inc.
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