title: Homozygous hemoglobin Abruzzo in a North American child.
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.
authors.affiliation: Tulane 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
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Venkateswaran
authors.forename: Kenneth C
authors.initials: KC
authors.lastname: Swanson
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
mesh_terms: D000328:Adult; D002648:Child; D003241:Consanguinity; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009656:North America; D010100:Oxygen / Q000097:blood; D010375:Pedigree; D011086:Polycythemia / Q000097:blood* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C067281:hemoglobin Abruzzo; D010100:Oxygen