A rule-based expert system for laboratory diagnosis of hemoglobin disorders.

OBJECTIVE

To illustrate the utility of a rule-based expert system in diagnosing hemoglobin disorders.

DESIGN

A rule-based expert system was developed for diagnosing hemoglobin disorders. This expert system runs on IBM-compatible personal computers and uses a backward-chaining search strategy to draw conclusions. Laboratory data (ie, results of hemoglobin electrophoresis, quantitative measurements of hemoglobin F and hemoglobin A2 levels, and result of a sickle cell screen) are processed by the system using defined rules to obtain a set of differential diagnoses. Additional data, such as hematologic parameters, ethnicity of the patient, and the presence or absence of certain clinical signs and symptoms, aid in making a final diagnosis. The rules in the current version of this expert system include diagnostic criteria for 71 hemoglobin disorders.

SETTING

Regional academic medical center.

PATIENTS

We tested the system by using 58 survey sample cases offered by the College of American Pathologists during the period of January 1989 through December 1994.

MAIN OUTCOME MEASURE

The established diagnosis for a given case must be included in the list of differential diagnoses suggested by the expert system.

RESULTS

The expert system included the actual diagnosis as one of the top four differential diagnoses in 90% of the cases, whereas all the laboratories participating in the survey included it in 84% (mean) of the cases.

CONCLUSION

We propose that this user-friendly expert system is a potential tool for computer-assisted diagnosis of hemoglobin disorders.