Newborn Screening for Metabolic and Sickle Cell Disorders Program
Hemoglobin C Disease
Brief Description
This autosomal recessive disorder results from the synthesis of abnormal hemoglobin molecules. Individuals may have a mild hemolytic anemia, small red blood cells (low MVC), and enlarged spleens.
Prevalence
(GA) About 5 in a 100,000 live births
Analyte/Lab Method
Hemoglobin fractions by isoelectric focusing (IEF), HPLC, and citrate agar electrophoresis
Abnormal Result(s) Suggesting Hemoglobin C Disease
FC
Feeding Effect
none
Timing Effect
none
Causes of False Positives/Negatives
Biologic variation in beta globin synthesis at birth, transfusions.
Treatment
Treatment is usually not required. Can be confused with iron deficiency anemia.
Symptoms
Symptoms include very mild hemolytic anemia and mild abdominal pain.
Comments
Consultation with a sickle cell center is encouraged.
Follow-up Program/Treatment Center
Newborn Screening Unit
Georgia Department of Public Health
NBS Program Coordinator: (404) 463-0815
Grady Health System
On-Call MD: (404) 616-3572
Additional Resources
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