Abstract
Abstract 5183
Carriers of α°-thalassemia (α-thalassemia trait) show microcytosis, hypochromia, and normal percentages of HbA2 and HbF. Carriers of α + -thalassemia (α-thalassemia silent carrier) have either a silent hematologic phenotype or present with a moderate thalassemia-like hematologic picture. Homozygosity for α + -thalassemia results in an α°-thalassemia (α-thalassemia trait) hematologic phenotype.
Classic testing for α-thalassemia includes: hematologic testing of red blood cell indices, peripheral blood smear, supravital stain to detect RBC inclusion bodies, and qualitative and quantitative hemoglobin analysis. HBA1, the gene encoding α1-globin, and HBA2, the gene encoding α2-globin, are the two genes most commonly associated with α-thalassemia. Molecular genetic testing of HBA1 and HBA2 detects deletions in about 90% and point mutations in about 10% of affected individuals.
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 Alfa Thalassemia Heterozygous.
We have collected 48 patients with Alfa Thalassemia Heterozygous 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).
| Diagnostic . | n . |
|---|---|
| NON BETA (control) | 184 |
| HbH (alfa thalasemia intermedia) | 129 |
| Alfa Thalassemia Heterozygous (study group) | 48 |
| Beta Thalassemia Trait | 30 |
| Hereditary Spherocytosis | 28 |
| Iron Deficiency Anaemia | 22 |
| Thalassemia intermedia (Beta-Thal Interm) | 18 |
| microdrepanocitosi (Beta-S) | 8 |
| Blackfan-Diamond Anemia | 3 |
| Dyserithropoietic Anaemia type I (CDA I) | 3 |
| Sickle cell anaemia | 3 |
| Piruvate-Kinase deficiency | 3 |
| IRIDA iron-refractory iron deficiency anemia | 3 |
| Fanconi's Anaemia | 2 |
| Dyserithropoietic Anaemia type II (CDA II) | 2 |
| Hyporegenerative anemia | 2 |
| Megaloblastic Anemia | 1 |
| Piruvate-Kinase deficiency Splenectomized | 1 |
| Hemoglobinopaty (Taybe) + α-thalassemia | 1 |
| Hemoglobinopaty hyperunstable (Hb Cagliari) | 1 |
| Hemoglobinopaty Koln | 1 |
| Acute Lymphoblastic Leukemia (ALL) | 1 |
| Pyropoikilocytosis | 1 |
| Evans's Syndrome | 1 |
| Diagnostic . | n . |
|---|---|
| NON BETA (control) | 184 |
| HbH (alfa thalasemia intermedia) | 129 |
| Alfa Thalassemia Heterozygous (study group) | 48 |
| Beta Thalassemia Trait | 30 |
| Hereditary Spherocytosis | 28 |
| Iron Deficiency Anaemia | 22 |
| Thalassemia intermedia (Beta-Thal Interm) | 18 |
| microdrepanocitosi (Beta-S) | 8 |
| Blackfan-Diamond Anemia | 3 |
| Dyserithropoietic Anaemia type I (CDA I) | 3 |
| Sickle cell anaemia | 3 |
| Piruvate-Kinase deficiency | 3 |
| IRIDA iron-refractory iron deficiency anemia | 3 |
| Fanconi's Anaemia | 2 |
| Dyserithropoietic Anaemia type II (CDA II) | 2 |
| Hyporegenerative anemia | 2 |
| Megaloblastic Anemia | 1 |
| Piruvate-Kinase deficiency Splenectomized | 1 |
| Hemoglobinopaty (Taybe) + α-thalassemia | 1 |
| Hemoglobinopaty hyperunstable (Hb Cagliari) | 1 |
| Hemoglobinopaty Koln | 1 |
| Acute Lymphoblastic Leukemia (ALL) | 1 |
| Pyropoikilocytosis | 1 |
| Evans's Syndrome | 1 |
Using ROC analysis, the best parameters differentiating the Alfa Thalassemia Heterozygous from the normals were: MCV (AUC 0. 963), @RSF (AUC 0. 936), @MSCV (AUC 0. 912), RDW (AUC 0. 848), @MAF(AUC 0. 845), @LHD(AUC 0. 829).
Using ROC analysis, the best parameters differentiating the Alfa Thalassemia Heterozygous from other anemias (excluding normals) were: RDW (AUC 0. 885), @MAF(AUC 0. 857), @MCNRET (AUC 0. 832).
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.
Author notes
Asterisk with author names denotes non-ASH members.
