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)

Maria O Boucher; David H K Chui; Bruce A Woda; Peter E Newburger

doi:10.3109/03630269.2016.1165245

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)

Hemoglobin. 2016 Jun;40(3):208-9. doi: 10.3109/03630269.2016.1165245.

Authors

Maria O Boucher¹, David H K Chui², Bruce A Woda³, Peter E Newburger⁴

Affiliations

¹ a Department of Pediatrics , Division of Pediatric Hematology & Oncology, University of North Carolina , Chapel Hill , North Carolina , USA.
² b Departments of Medicine , Pathology & Laboratory Medicine, Boston University School of Medicine , Boston , Massachusetts , USA.
³ c Department of Pathology , University of Massachusetts Medical School , Worcester , Massachusetts , USA and.
⁴ d Department of Pediatrics and Department of Molecular , Cell, and Cancer Biology, University of Massachusetts Medical School , Worcester , Massachusetts , USA.

PMID: 27117572
DOI: 10.3109/03630269.2016.1165245

Abstract

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.

Keywords: Compound heterozygosity; Hb C; Hb Osu Christiansborg; microcytic anemia.

Publication types

Case Reports

MeSH terms

Anemia, Hypochromic / genetics*
Hemoglobin C / genetics*
Hemoglobins, Abnormal / genetics*
Heterozygote*
Humans
Infant
Phenotype

Substances

Hemoglobins, Abnormal
hemoglobin Osu-Christiansborg
Hemoglobin C

Supplementary concepts

Anemia, hypochromic microcytic