Two new hemoglobin variants: Hb Sinai-Greenspring [β34(B16) Val→Ile, GTC > ATC] and Hb Sinai-Bel Air [β53(D4)Ala→Asp, GCT > GAT]

Erin Dainer, Robert E. Wenk, Ruth Luddy, Dedrey Elam, Leslie Holley, Abdullah Kutlar, Ferdane Kutlar

Research output: Contribution to journalArticle

Abstract

Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different β chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified β-globin genes. Functional studies could not be performed at this time.

Original languageEnglish (US)
Pages (from-to)588-591
Number of pages4
JournalHemoglobin
Volume32
Issue number6
DOIs
StatePublished - Nov 1 2008

Keywords

  • β chain variant
  • DNA sequencing
  • High-performance liquid chromatography (HPLC)
  • Newborn screening

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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