Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia

J Pediatr Hematol Oncol. 2016 Jan;38(1):e32-4. doi: 10.1097/MPH.0000000000000477.

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.

Publication types

  • Case Reports

MeSH terms

  • Chromatography, High Pressure Liquid
  • Fetal Hemoglobin*
  • Hemoglobin A2 / genetics
  • Humans
  • Infant, Newborn
  • Isoelectric Focusing
  • Male
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin A2
  • Fetal Hemoglobin