Bad Signs: Sickle-Cell Disease and Stroke

Abstract

Johnny was a delightful little boy who was born with sickle-cell disease, an inherited genetic disorder that affects hemoglobin, a protein in the red blood cells responsible for transporting oxygen. Normal red blood cells are soft and round. In sickle-cell disease, the red blood cells are hard and sickle in shape. Consequently, they are likely to get stuck within blood vessels, causing severe pain and other medical complications. Specifically, sickle-cell disease is associated with increased incidence of vascular occlusions (pain crisis), cerebrovascular occlusions (stroke), infections, pulmonary difficulties, and organ damage. Some individuals with sickle-cell disease experience few complications, while others experience many.

Unfortunately, for Johnny and his family, he experienced many sickle-cell-related complications. Johnny spent much of his 10 years of life in and out of hospitals. During his first year of life, he experienced a condition called dactylitis, the swelling of the fingers and toes. Many pediatric hematologists (doctors who work with children who have blood diseases like sickle-cell disease) consider dactylitis to be a “bad” sign (i.e., individuals who experience dactylitis in their first year of life are at higher risk for more severe complications of the disease than those who do not). Johnny also experienced a condition called acute chest syndrome (a new abnormal finding on a chest X ray and associated with a low oxygen level), a severe complication of sickle-cell disease that may increase the risk of stroke. If sickle-cell disease was not enough, Johnny also suffered from asthma, something not uncommon in children and adolescents with sickle-cell disease.