Sickle Cell Disease

Sickle cell anemia (SCA) is a hemolytic anemia characterized by abnormally shaped (sickled) red

blood cells (RBCs), a point mutation in the gene coding the β chain of the hemoglobin

molecule resulted in a single amino acid substitution (valine for glutamic acid) in the β globin

chain.

History : A 22 yr old man presented with pain in the hip joint and difficulty in walking.

On detailed evaluation, Painful priapism was there. Childhood history of dactylitis was there.

The case was referred to the Radiology Department as a case of Tubercular arthritis of the hip.

MRI evaluation revealed :

Avascular necrosis of bilateral femoral heads – Early (Stage Ia) on right side and End (Stage VI) on the left side.

Bilateral joint effusion (Left>right) with multiple loose bodies and features of synovitis in the left hip joint.

Features of medullary infarcts in bilateral femurs.

Upon further evaluation (X-Ray and USG correlation ) :

Features of bone infarcts and absent spleen were noted. Gall stones (which are a common association was also seen).

Old sequelae of dactylitis was noted in both the hands.

Upon suspicion, further lab tests were done, which showed HB-SS disease and Sickle Cell Anemia was confirmed.