Hemoglobin F only syndrome at birth: A case of maternal HbA2' complicating the diagnosis of β-thalassemia

Marianne E.M. Yee, Maa Ohui Quarmyne, Catherine Segbefia, Andrew N. Young, Lina Zhuang, Ferdane Kutlar

Research output: Contribution to journalArticle

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e32-e34
JournalJournal of Pediatric Hematology/Oncology
Volume38
Issue number1
DOIs
Publication statusPublished - Jan 1 2016

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Keywords

  • Fetal hemoglobin
  • β-thalassemia
  • δ-globin mutations

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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