Homozygous hemoglobin Abruzzo in a North American child.
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.
Venkateswaran
Lakshmi
L
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
Swanson
Kenneth C
KC
Hoyer
James D
JD
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
D006455:Hemoglobins, Abnormal; C067281:hemoglobin Abruzzo; D010100:Oxygen