Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys]

Hemoglobin. 2000 Feb;24(1):45-52. doi: 10.3109/03630260009002273.

Abstract

Two new fetal hemoglobin variants affecting the Ggamma chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [beta19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.

Publication types

  • Case Reports

MeSH terms

  • Africa, Northern / ethnology
  • Algeria / ethnology
  • Amino Acid Substitution
  • Chromatography, High Pressure Liquid
  • Family Health
  • Fetal Hemoglobin / chemistry*
  • Fetal Hemoglobin / genetics*
  • France / epidemiology
  • France / ethnology
  • Genetic Variation
  • Globins / chemistry*
  • Globins / genetics*
  • Hemoglobins, Abnormal / chemistry*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Molecular Weight
  • Morocco / ethnology
  • Neonatal Screening
  • Tunisia / ethnology
  • alpha-Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • hemoglobin F Clamart
  • hemoglobin F Ouled Rabah
  • Globins
  • Fetal Hemoglobin