ABSTRACT
A 4-year-old male child of Caucasian ethnicity was investigated for moderate hemolytic and non immune-mediated anemia. The presence of splenomegaly and the elevation of Hb A(2) and Hb F and the exclusion of a defect of protein of red blood cell (RBC) membranes defined a clinical picture of ß-thalassemia intermedia (ß-TI). The molecular analysis showed a heterozygous IVS-II-1 (HBB: c.315G > A) mutation on the ß-globin gene, in the absence of extra α-globin genes or unstable hemoglobin (Hb) chains.
Subject(s)
Mutation , beta-Globins/genetics , beta-Thalassemia/diagnosis , beta-Thalassemia/genetics , Child, Preschool , Erythrocyte Indices , Humans , Introns , Male , PhenotypeABSTRACT
The blood transfusion is a complex activity subject to a high risk of eventually fatal errors. The development and application of computer-based systems could help reducing the error rate, playing a fundamental role in the improvement of the quality of care. This poster presents an under development eLearning tool formalizing the guidelines of the transfusion process. This system, implemented in YAWL (Yet Another Workflow Language), will be used to train the personnel in order to improve the efficiency of care and to reduce errors.
