Newborn Screening for Metabolic and Sickle Cell Disorders Program
Beta-Thalassemia (F only)
Brief Description
This group of autosomal recessive disorders results from the decreased or absent production of Beta (ß) globin chains in structurally normal hemoglobin. The complete absence of Beta (ß) globin is called Beta-zero thalassemia (ß0 ). The presence of some beta-globin but in marked reduced amounts is called Beta-plus thalassemia (ß+). Milder forms of this disorder, ß-thalassemia minor and ß-intermedia, also exists.
Prevalence
(GA) Unknown
Analyte/Lab Method
Hemoglobin fractions by isoelectric focusing (IEF), HPLC, and citrate agar electrophoresis.
Abnormal Result
F only
Timing Effect
none
Causes of False Positives/Negatives
Transfusions, beta plus infants usually are not detected.
Treatment
None required to life-long blood transfusions, and chelation therapy. Bone marrow transplants have cured many cases.
Symptoms
Decreased hemoglobin synthesis causes microcytosis and the unbalanced production of a and ß globin leads to ineffective erythropoiesis and hemolysis.
Comments
Beta-thalassemias are usually not detectable by newborn screening, but important clues may be provided. They can also interact with structurally abnormal hemoglobins to produce significant diseases. All confirmed F only infants need evaluation by a sickle cell center.
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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