A multicenter trial of the effectiveness of zeta-globin enzyme-linked immunosorbent assay and hemoglobin H inclusion body screening for the detection of alpha0-thalassemia trait.

Abstract

Routine laboratories use a hemoglobin H (HbH) screen to detect alpha-thalassemia carriers of fatal hemoglobin Bart's hydrops fetalis. This test is laborious and has sensitivity concerns. A commercial zeta-globin enzyme-linked immunosorbent assay (ELISA) is effective in detecting Southeast Asian (SEA) alpha-thalassemia. We present results of a study of the effectiveness of carrier detection of ELISA and a shortened HbH screen compared with gap polymerase chain reaction. ELISA was superior to the HbH screen for the SEA alpha0-thalassemia trait. The ELISA and H screen were equal for detection of all carriers encountered and combined were more effective than either test alone. A positive zeta-globin ELISA result is diagnostic of SEA alpha-thalassemia, and routine use of the zeta-globin ELISA in combination with a shortened HbH screen will improve the efficacy of prenatal screening for carriers of hemoglobin Bart's hydrops fetalis through improved detection and referral for follow-up DNA testing.

• Authors: John D Lafferty, David S Barth, Brian L Sheridan, Andrew G McFarlane, Linda M Halchuk, Anne Raby, Mark A Crowther
• Journal: American journal of clinical pathology (Am J Clin Pathol) Vol. 129 Issue 2 Pg. 309-15 (Feb 2008) ISSN: 0002-9173 [Print] England
• PMID: 18208812 (Publication Type: Clinical Trial, Comparative Study, Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)

Chemical References

• Globins
• Hemoglobin H

Topics

• Adolescent
• Adult
• Enzyme-Linked Immunosorbent Assay (methods)
• Erythrocyte Inclusions (chemistry)
• Genetic Carrier Screening
• Genetic Testing
• Globins (analysis)
• Hemoglobin H (analysis)
• Humans
• Polymerase Chain Reaction
• alpha-Thalassemia (diagnosis)