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Sickle
Cell Disease
Primary Defect
Abnormal synthesis of hemoglobin Beta-Chains resulting in sickling of red
blood cells
Screening Test
-Isoelectric focusing (IEF)
-High Performance Liquid Chromatography (HPLC)
-DNA
Etiology & Prevalence
Genetic (autosomal recessive)
Occurs in about 1 in 10,000 births in Washington
If Untreated
Frequent infections and sudden anemic crises often leading to death
Therapy
-Daily regimen of penicillin prophylaxis through age six
-Immunization against Pneumococcal and Hemophilus influenza infection
-Frequent prevention health monitoring utilizing a comprehensive team
-Rapid access to appropriate emergency medical care
With Treatment
Reduced infection, illness and death
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