Beta Thalassemia Trait: How the New Information Provided by the Routine Hematology Analysers May Help in Its Differential Diagnosis or Flagging

Abstract

AbstractAbstract 5186 Introduction:Beta Thalassemia (β-thalassemia) is one of the more common hemoglobinopathies worldwide, being the heterozygous variant, called Beta Thalassemia Trait, a benign variant, but important to diagnose, for genetic counseling, trying to avoid the homozygous variant, called major. Diagnostic of Beta Thalassemia Trait:Classic testing for β-thalassemia includes: hematologic testing of red blood cell indices, peripheral blood smear (prewsence of target cells and RBC with basophilic stippling, etc.), and qualitative and quantitative hemoglobin analysis. Have been proposed too Discriminant functions, like the one published many years ago, by England and Fraser. Objective:Recently have been developed new parameters and information in the new automated hematology analyzer called DxH8008™ from Beckman Coulter as @MSCV, @RSF, @MAF, @ LHD% and many morphological parameters for RBC and Reticulocytes calles Cell Population Data. All this parameters may be used to create flagging for laboratory use only (LUO) or Research use only (RUO). The purpose of this study is to investigate the possible use or utility of this new information for the screening/flagging of Beta Thalassemia Trait. Patient and Methods:We have collected 30 patients with Beta Thalassemia Trait. All of them were confirmed by red cell morphology, Hgb Electroforesis, cromatography in liquid phase in human whole blood for the determination of Hemoglobin A2, F, A1c, and identification of abnormal hemoglobins and DNA analysis (DNA Analysis by GAP-PCR). We have compared these patients with a control group (184 individuals) and with other anemias (see Table 1).Table 1DiagnosticnNON BETA (control)184HbH (alfa thalasemia intermedia)129Alfa Thalassemia Heterozygous48Beta Thalassemia Trait (study group)30Hereditary Spherocytosis28Iron Deficiency Anaemia22Thalassemia intermedia (Beta-Thal Interm)18microdrepanocitosi (Beta-S)8Blackfan-Diamond Anemia3Dyserithropoietic Anaemia type I (CDA I)3Sickle cell anaemia3Piruvate-Kinase deficiency3IRIDA iron-refractory iron deficiency anemia3Fanconi's Anaemia2Dyserithropoietic Anaemia type II (CDA II)2Hyporegenerative anemia2Megaloblastic Anemia1Piruvate-Kinase deficiency Splenectomized1Hemoglobinopaty (Taybe) + α-thalassemia1Hemoglobinopaty hyperunstable (Hb Cagliari)1Hemoglobinopaty Koln1Acute Lymphoblastic Leukemia (ALL)1Pyropoikilocytosis1Evans's Syndrome1 Results:Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from the normals were: MCV (AUC 1. 000), MRV (AUC 0. 999), @MAF(AUC 0. 999), @MCNRET (AUC 0. 997), RDW (AUC 0. 957), HGB (AUC 0. 915), RBC(AUC 0. 912).Using ROC analysis, the best parameters differentiating the Beta Thalassemia Trait from other anemias (excluding normals) were: RDW-SD (AUC 0. 937), DF Eng-Fra (AUC 0. 779), RDW (AUC 0. 766), RBC (AUC 0. 734) Disclosures:Simon-Lopez:Beckman Coulter: @LHD, @MAF, @RSF, @LHD, @MAF, @RSF Patents & Royalties, Employment. Di Gaetano:Instrumentation Laboratory spa: Work for a distributor of Beckman Coulter Instruments in Italy Other. Galanello:Ferrokin: Research Funding; Apopharma: Research Funding, Speakers Bureau; Novartis: Research Funding, Speakers Bureau.