SICKLE CELL DISEASE

Genetic etiology with recessive inheritance of abnormal Hgb S or Hgb C (occasionally D, E & rare variants). Can be homozygous (clinically the most severe) or heterozygous. State law requires screening of all newborns for abnormal hemoglobin. PATH REVIEW: Normal RBCs are pliable, disc-shaped. A sickled RBC is irreversibly changed and becomes hard, non-pliable, and does not flow easily throughout the blood vessels. It can become stuck at bifurcations, causing tissue hypoxia and severe pain. Any abnormal Hgb has a shorter life spanabout 20 days before it is filtered out by the spleen. The abnormal Hgb and short life span cause a chronic hemolytic anemia.

COMMON MANIFESTATIONS/COMPLICATIONS
Vaso-occlusive pain crisis is the most common complication and the most frequent cause of hospitalization. Bone or joint pain is typical, but pain may occur anywhere. Precipitating factors are: cold, stress, dehydration, infection, acidosis, local or generalized hypoxia. Treatment is supportive and includes IV Morphine, IV toradol, oxygen, vigorous IV hydration (up to twice maintenance), and often RBC transfusion. OTHER COMPLICATIONS associated with sickling are: Dactylitis Acute chest syndrome Priapism Stroke Gall Bladder Disease RARER COMPLICATIONS are Aplastic Crisis --when erythropoiesis is suddenly halted due to infection (usually a parvo virus), and Acute Sequestration Crisis --Blood volume pools in the spleen causing splenic enlargement, and in severe cases, hypovolemic shock. OVERALL MANAGEMENT is supportive in nature, but bone marrow transplantation is a possible curative treatment. Hydroxyurea may also be used.