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Published on: September 6, 2017
Homozygous hemoglobin Abruzzo in a North American child
Lakshmi Venkateswaran1, Kenneth C Swanson, James D Hoyer
1Tulane University School of Medicine, Huey P. Long Medical Center, Pineville, LA 71361, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. lakshmimd@hotmail.com
Abstract:
Hemoglobin Abruzzo is a stable hemoglobin variant with increased oxygen affinity, clinically causing compensatory erythrocytosis in affected patients. Heterozygosity of this variant with or without beta-thalassemia has been previously described in three Italian families, thereby suggesting a single origin of the mutation. The authors report the first case of homozygosity in a North American female infant, born to heterozygous parents as a product of consanguineous marriage.
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