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 journalArticle

1 Citation (Scopus)

Abstract

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
Volume31
Issue number4
DOIs
StatePublished - Apr 2009
Externally publishedYes

Fingerprint

Mutation
Thalassemia
Pallor
Hepatomegaly
Globins
beta-Thalassemia
HLA Antigens
Jaundice
DNA Sequence Analysis
Codon
Erythrocytes
Parents
Mothers
hemoglobin Lufkin
Genes

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology
  • Medicine(all)

Cite this

Hsu, P., Wu, D. W., Blutreich, A. M., Kurtin, P. J., Hoyer, J. D., & Karayalcin, G. (2009). Spontaneous mutation of hemoglobin lufkin in a white boy. Journal of Pediatric Hematology/Oncology, 31(4), 281-284. https://doi.org/10.1097/MPH.0b013e31819c9a44

Spontaneous mutation of hemoglobin lufkin in a white boy. / Hsu, Peihong; Wu, Ding Wen; Blutreich, Ahna M.; Kurtin, Paul J.; Hoyer, James D.; Karayalcin, Gungor.

In: Journal of Pediatric Hematology/Oncology, Vol. 31, No. 4, 04.2009, p. 281-284.

Research output: Contribution to journalArticle

Hsu, P, Wu, DW, Blutreich, AM, Kurtin, PJ, Hoyer, JD & Karayalcin, G 2009, 'Spontaneous mutation of hemoglobin lufkin in a white boy', Journal of Pediatric Hematology/Oncology, vol. 31, no. 4, pp. 281-284. https://doi.org/10.1097/MPH.0b013e31819c9a44
Hsu, Peihong ; Wu, Ding Wen ; Blutreich, Ahna M. ; Kurtin, Paul J. ; Hoyer, James D. ; Karayalcin, Gungor. / Spontaneous mutation of hemoglobin lufkin in a white boy. In: Journal of Pediatric Hematology/Oncology. 2009 ; Vol. 31, No. 4. pp. 281-284.
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