Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A).
We report an infant with a compound heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A) and a phenotype of mild microcytic anemia with target cell morphology but without overt hemolysis.
a Department of Pediatrics , Division of Pediatric Hematology & Oncology, University of North Carolina , Chapel Hill , North Carolina , USA.
Maria O
MO
Boucher
b Departments of Medicine , Pathology & Laboratory Medicine, Boston University School of Medicine , Boston , Massachusetts , USA.
David H K
DH
Chui
c Department of Pathology , University of Massachusetts Medical School , Worcester , Massachusetts , USA and.
Bruce A
BA
Woda
d Department of Pediatrics and Department of Molecular , Cell, and Cancer Biology, University of Massachusetts Medical School , Worcester , Massachusetts , USA.
Peter E
PE
Newburger
D000747:Anemia, Hypochromic / Q000235:genetics*; D006444:Hemoglobin C / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010641:Phenotype
D006455:Hemoglobins, Abnormal; C119901:hemoglobin Osu-Christiansborg; D006444:Hemoglobin C
Compound heterozygosity; Hb C; Hb Osu Christiansborg; microcytic anemia