Hb manukau [β67(e11)val→gly; Hbb: C.203t>g]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia

Mudra Kohli Kumar, Courtney Judd, James D. Hoyer, Kenneth C. Swanson, Linda Nelson, Jennifer L. Oliveira

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

The increasing availability of DNA sequencing of globin genes has improved our ability to detect conditions that were presumed to be extremely rare. These conditions may remain undiagnosed due to unfamiliarity with clinical presentation, relative unavailability of advanced diagnostic alternatives, or may defy detection by being electrophoretically silent or extreme instability rendering their presence to be below detection level. Genetic studies were pursued in a mother and daughter with severe hemolytic anemia as initial testing failed to be diagnostic. DNA sequence analysis of the β-globin gene identified Hb Manukau [β67(E11)Val→Gly; HBB: c.203T>G], an extremely unstable hemoglobin (Hb) variant. This is the second family described with this condition (first in the western hemisphere). An astute clinician may benefit from being persistent and pursuing additional testing including molecular genetic characterization where clinical suspicion remains high.

Original languageEnglish (US)
Pages (from-to)211-212
Number of pages2
JournalHemoglobin
Volume38
Issue number3
DOIs
StatePublished - 2014

Keywords

  • Genetic testing
  • Hb manukau
  • Hemoglobinopathy
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

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

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