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.
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.
Lafferty
John D
JD
McMaster University, Hamilton Regional Laboratory Medicine Program, Toronto, Canada.
Barth
David S
DS
Sheridan
Brian L
BL
McFarlane
Andrew G
AG
Halchuk
Linda M
LM
Raby
Anne
A
Crowther
Mark A
MA
D000293:Adolescent; D000328:Adult; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods*; D004908:Erythrocyte Inclusions / Q000737:chemistry; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D005914:Globins / Q000032:analysis*; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000175:diagnosis*
D005914:Globins; D006447:Hemoglobin H