Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia. Issue 1 (January 2016)

• Record Type: Journal Article
• Authors: Yee, Marianne E. M.; Quarmyne, Maa-Ohui; Segbefia, Catherine; Young, Andrew N.; Zhuang, Lina; Kutlar, Ferdane
• Is Part Of: Journal of pediatric hematology/oncology. Volume 38:Issue 1(2016)
• Publication Date: 2016-01
• Subjects: β-thalassemia -- δ-globin mutations -- fetal hemoglobin; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000000477
• Languages: English
• ISSNs: 1077-4114

Abstract

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.