How to reach rapid diagnosis in sickle cell disease?

OBJECTIVE

Sickle cell disease (SCD) is a common hereditary disease in Iran. In developed countries, newborn screening programs have been established to ensure early diagnosis, but in most developing countries, screening is not performed and the diagnosis is often delayed. The aim of the present work was to investigate the clinical presentation of SCD in Iran and comparison of its hematologic indices with normal children.

METHODS

The study included 44 pediatric patients (26 boys and 18 girls) with sickle cell anemia (SS), 27 sickle /β°-thalassemia (Sβ°), and 21 sickle /β(+)-thalassemia (Sβ(+)). Fifty seven healthy individuals matched with the patients were randomly selected as controls.

FINDINGS

Mean age at diagnosis in SS group was 4.3 years. At the time of diagnosis all patients were anemic, 89% complained of painful crises. Hemoglobin(Hb) concentration, red blood cell (RBC) count and Hb×RBC product in SS group was significantly lower than in control group (P<0.001), mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) showed no significant differences. Hb×RBC product below 45 and MCH/RBC above 7 have the best sensitivity and specificity for differenting SS group and the control normal group (91 and 98% for Hb×RBC and 89 and 100% for MCH/RBC respectively). Mean age at diagnosis in Sβ(+) group was higher than in SS and Sβ° groups (7.45 year vs 4.26 and 4.25 year) (P<0.001). In addition, Sβ° and Sβ(+) groups had significantly lower MCV, MCH, and Hb×RBC indices compared with control group.

CONCLUSION

We suggest that in an anemic patient with history of pain crises, normochrome normocytic anemia, Hb×RBC <45 and MCH/RBC ≥7, SCD should be considered and the patient evaluated accordingly to confirm the diagnosis.