title: Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia.
abstract: An asymptomatic infant of Ghanaian descent had hemoglobin F only detected on newborn screening. β-globin gene sequencing identified the intervening sequence (IVS)-II-849 (A → G) mutation with no normal β-globin gene. β-globin/δ-globin gene sequencing showed that both parents were heterozygous for the IVS-II-849 (A → G) mutation. The mother was heterozygous for the HbA2' δ-globin mutation (δ16 (A13) Gly → Arg), thus β-thalassemia trait was unrecognized due to coinheritance of HbA2'. The infant developed anemia, splenomegaly, and began transfusion therapy by the age 6 of months. This is the first report of β-thalassemia major with homozygous IVS-II-849 (A → G) mutations. This case highlights the importance of δ-globin gene mutations in prenatal testing.
authors.affiliation: *Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta †Department of Pediatrics, Division of Hematology/Oncology/BMT, Emory University School of Medicine §Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta ∥Division of Hematology/Oncology/Sickle Cell Center, Medical College of Georgia, Georgia Regents University, Augusta, GA ‡Department of Child Health, School of Medicine and Dentistry, Korle-Bu, Accra, Ghana.
authors.forename: Marianne E M
authors.initials: ME
authors.lastname: Yee
authors.forename: Maa-Ohui
authors.initials: MO
authors.lastname: Quarmyne
authors.forename: Catherine
authors.initials: C
authors.lastname: Segbefia
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Young
authors.forename: Lina
authors.initials: L
authors.lastname: Zhuang
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005319:Fetal Hemoglobin; D006443:Hemoglobin A2 / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D008297:Male; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006443:Hemoglobin A2; D005319:Fetal Hemoglobin