An atypical presentation and diagnostic dilemma of sickle cell disease

Abstract

A 5½ year old male child of a consanguineous couple presented with moderately high fever, hepatosplenomegaly and severe pain in the left upper quadrant of the abdomen for four days. On examination, the child was found severely anemic, ill-looking and mildly icteric but the abdomen was soft and non-tender. Radiological investigations and ultrasonography of the whole abdomen revealed the diagnosis of space occupying lesions which may be either due to splenic abscess/cyst or leukemia/lymphoma. However, blood film revealed the features of hereditary hemolytic anemia and later on hemoglobin electrophoresis initially commented as HbSbeta thalassemia but subsequent family screening of the patient turned out to a case of homozygous sickle cell anemia or sickle cell disease. To resolve such diagnostic dilemma, it is very much essential to analyze critically the history including family history, clinical and physical findings as well as investigational findings.