Spontaneous mutation of hemoglobin lufkin in a white boy

Peihong Hsu, Ding Wen Wu, Ahna M. Blutreich, Paul J. Kurtin, James D. Hoyer, Gungor Karayalcin

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with β thalassemia. DNA sequencing of the β globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a β thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.

Original languageEnglish (US)
Pages (from-to)281-284
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Issue number4
StatePublished - Apr 2009


  • Hemoglobin Lufkin
  • Molecular studies
  • Mutation
  • Parental testing
  • Thalassemia

ASJC Scopus subject areas

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


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