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A Fast Hemoglobin Variant on Newborn Screening is Associated with - Thalassemia Trait

Children's Medical Center of Brooklyn, State University of New York-Health Science Center at Brooklyn and Wadsworth Center for Laboratories and Research, New York State Department of Health; SUNY-Brooklyn, Box 49, 450 Clarkson Ave., Brooklyn NY 11203

Ninad Desai, MD

Kenneth A. Pass, PhD

Sreedhar P. Rao, MD

Children's Medical Center of Brooklyn, State University of New York-Health Science Center at Brooklyn and Wadsworth Center for Laboratories and Research, New York State Department of Health

Alpha thalassemia trait (a-thal-1) is a common cause of microcytosis in black and Asian populations. A small amount of hemoglobin Barts (2-8%) is transiently present in affected infants at birth and detectable in many newborn screening laboratories; it is a fast-moving hemoglobin on electrophoresis. In order to determine whether a report of a "fast hemoglobin variant" on newborn hemoglobinopathy screening is associated with a diagnosis of alpha thalassemia trait, hemoglobin concentration, red blood cell indices, and peripheral blood smear examination were performed on 18 infants referred for hematologic evaluation of a "fast hemoglobin variant" on newborn screening. All 18 infants with this diagnosis referred for consultation were black; ages ranged from 24 to 86 days (median 40 days). Six of 18 infants (33%) were mildly anemic for age and all 18 were microcytic. The prevalence of a "fast variant" among infants born at our institution is 2.5%. In that conditions other than oc-thal-I that cause microcytosis in early infancy are very uncommon, we conclude that all 18 of our infants with a fast hemoglobin on newborn screening likely have a-thal-1. The newborn screening result is thus a commonly and readily available laboratory report that specifically supports a diagnosis of oc-thal-1, a diagnosis with significant clinical and genetic implications that is usually made only by exclusion.

Clinical Pediatrics, Vol. 36, No. 2, 75-78 (1997)
DOI: 10.1177/000992289703600203


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