A Multicenter Trial of the Effectiveness of ζ-Globin Enzyme-Linked Immunosorbent Assay and Hemoglobin H Inclusion Body Screening for the Detection of α0-Thalassemia Trait Academic Article uri icon

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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

  • Lafferty, John D
  • Barth, David S
  • Sheridan, Brian L
  • McFarlane, Andrew G
  • Halchuk, Linda M
  • Raby, Anne
  • Crowther, Mark

publication date

  • February 2008