DAO-2, a New Software Tool for Multiple Differential Diagnoses with Probability. Application for the Screening of Rare Anemias in Sardinia

The increasing number of laboratory parameters and diagnostic information makes every day more difficult to remember the entire differential Diagnosis list for all of them. The high prevalence or rare anemias in the island of Sardinia (Italy) makes mandatory to screen the general population for the possible presence of hemoglobinopathies. In fact, the prevalence of Beta Thalassemia goes from 9.1 % of the population in the City of Nuoro to 11.7% in the City of Muravera. The prevalence of Alpha Thalassemia genetic mutations is much more frequent, going from 9.1% in the City of Tempio to 39% in the City of Alghero.

DAO-2 is a software tool made using C## (C Sharp) and SQL relational databases, that permit to do Multiple Differential Diagnoses that consist in the Differential Diagnosis of more than one symptom at the same time. After, using the probabilistic theory called Bayes Theorem or Rule of Bayes, gives the probability of every possible disease or medical condition.

We have checked the utility of DAO-2 as a software tool for the screening of the rare anemias in Sardinia. The Ospedale Pediatrico Microcitemico is a Hospital a Specialized in thalassemia and other rare anemias. We have cheked the utility of DAO-2 in 394 consecutive patients with a known anemia that came to our hospital and also in 195 persons in that we have excluded the presence of anemia or genetic conditions that predispose to a rare anemia (controls).

The use of this new software, called DAO-2 makes possible to predict in the majority of the cases the presence of a rare anemia or a heterozygous non clinical carrier of genetic changes that can provoke a rare anemia. It is necessary to do prospective studies to check the efficiency of this software before to use it in the clinical practice.