Hb Valletta [beta87(F3)Thr-->Pro] and Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a unique compound heterozygote with a normal hemoglobin phenotype

Hemoglobin. 2010 Jan;34(2):169-74. doi: 10.3109/03630261003673675.

Abstract

This study refers to the quantitative hemoglobin (Hb) phenotype of a 19-year-old female with Hb Valletta [beta87(F3)Thr-->Pro] in association with Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu] and a normal Hb electrophoretogram. The data serve to alert investigators to the possibility that relatives with apparently normal Hb phenotypes may be transmitting mutant alleles and suggest methods for identification.

Publication types

  • Case Reports

MeSH terms

  • Blood Transfusion
  • England / ethnology
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Hemorrhage / etiology
  • Hemorrhage / therapy
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Malta
  • Middle Aged
  • Pedigree
  • Phenotype
  • Pregnancy
  • Pregnancy Complications, Hematologic / genetics*
  • Pregnancy Complications, Hematologic / therapy
  • Young Adult
  • beta-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • beta-Globins
  • hemoglobin Valletta
  • hemoglobin Marseille