Hemoglobin J Guantanamo [alpha 2 beta 2 128 (H6) Ala----Asp] in association with hemoglobin C and alpha-thalassemia in a family from Benin

Am J Hematol. 1988 Jul;28(3):170-5. doi: 10.1002/ajh.2830280308.

Abstract

Hemoglobin J (HbJ), Guantanamo, which had been described but once in the literature, was found in a family originating from Benin; this second case was found to be in association with hemoglobin C (HbC) and alpha-thalassemia. High-performance liquid chromatography (HPLC) procedures and microsequencing were used for characterization of the aminoacid substitution. The main hematological disorder, in relation with the instability of Hb J Guantanamo, seems to be a worsening of the rheological properties of the red blood cells (RBC), as demonstrated by ektacytometric studies. Oxygen-binding properties of the RBC were almost normal, but a slight decrease in cooperativity and lowered Bohr and 2,3-diphosphoglycerate (DPG) effects were observed for pure stripped Hb J Guantanamo. The expression of the electrophoretic charge difference was partly masked, as is often observed when the structural abnormality is situated in or near a contact area.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • DNA Restriction Enzymes / analysis
  • Erythrocyte Deformability
  • Erythrocyte Volume
  • Erythrocytes / metabolism
  • Erythrocytes / pathology
  • Hemoglobin C / analysis*
  • Hemoglobin J / analysis*
  • Hemoglobins, Abnormal / analysis*
  • Humans
  • Kinetics
  • Nigeria
  • Oxygen / blood
  • Pedigree
  • Peptide Mapping
  • Thalassemia / blood*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin J
  • hemoglobin J Guantanamo
  • Hemoglobin C
  • DNA Restriction Enzymes
  • Oxygen