Newborn Screening for Metabolic and Sickle Cell Disorders Program
Hemoglobin E Disease
Brief Description
These autosomal recessive disorder result from the synthesis of abnormal hemoglobin molecules. Individuals who are homozygous for hemoglobin E have small red cells (low MCV) and no anemia. Individuals who are compound heterozygotes for hemoglobin E and beta zero thalassemia may have small red cells (low MCV) and severe transfusion dependent anemia.
Prevalence
(GA) About 10 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 E or E Thalassemia
FE
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. Individuals with hemoglobin E thalassemia may require life-long transfusion and other treatment.
Symptoms
Symptoms are from none to severe anemia.
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
|
