The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant

Hemoglobin. 2007;31(2):179-82. doi: 10.1080/03630260701289490.

Abstract

Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably due to a modification of the alpha-globin chain domain that is recognized by the a hemoglobin stabilizing protein (AHSP). The present case of Hb Groene Hart homozygosity, confirms that the alpha-thal phenotype is associated with this alpha-globin chain. Hb Groene Hart must be quite frequent not only in Morocco but probably also among the northern African coastal population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Genetic Variation*
  • Hemoglobins, Abnormal / genetics*
  • Homozygote
  • Humans
  • Netherlands
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Proline
  • Serine
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Groene Hart
  • Serine
  • Proline