Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl

Silvia Eandi Eberle, Nélida I. Noguera, Gabriela Sciuccati, Mariana Bonduel, Lilian Díaz, Raquel Staciuk, Héctor M. Targovnik, Aurora Feliu-Torres

Research output: Contribution to journalArticlepeer-review

Abstract

□ Hb Alesha is caused by a GTG→ATG mutation at codon 67 of the β-globin gene, resulting in abnormal β-globin chains in which the normal β67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.

Original languageEnglish
Pages (from-to)379-382
Number of pages4
JournalHemoglobin
Volume31
Issue number3
DOIs
Publication statusPublished - Jul 2007

Keywords

  • Abnormal Hb
  • Hemolytic anemia
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

  • Hematology
  • Biochemistry

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