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 Citations (Scopus)

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
StatePublished - Jan 1 2016

Fingerprint

Fetal Hemoglobin
Thalassemia
Globins
Mothers
Parturition
Mutation
Introns
Genes
beta-Thalassemia
Splenomegaly
Anemia
Parents
Newborn Infant

Keywords

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

ASJC Scopus subject areas

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

Cite this

Hemoglobin F only syndrome at birth : A case of maternal HbA2' complicating the diagnosis of β-thalassemia. / Yee, Marianne E.M.; Quarmyne, Maa Ohui; Segbefia, Catherine; Young, Andrew N.; Zhuang, Lina; Kutlar, Ferdane.

In: Journal of Pediatric Hematology/Oncology, Vol. 38, No. 1, 01.01.2016, p. e32-e34.

Research output: Contribution to journalArticle

Yee, Marianne E.M. ; Quarmyne, Maa Ohui ; Segbefia, Catherine ; Young, Andrew N. ; Zhuang, Lina ; Kutlar, Ferdane. / Hemoglobin F only syndrome at birth : A case of maternal HbA2' complicating the diagnosis of β-thalassemia. In: Journal of Pediatric Hematology/Oncology. 2016 ; Vol. 38, No. 1. pp. e32-e34.
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