Hemoglobin J Guantanamo [alpha 2 beta 2 128 (H6) Ala----Asp] in association with hemoglobin C and alpha-thalassemia in a family from Benin.
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.
Wajcman
H
H
INSERM U299, Hôpital de Bicêtre, Le Kremlin Bicêtre, France.
Baudin-Chich
V
V
Kister
J
J
Feo
C
C
Gombaud-Saintonge
G
G
Bohn
B
B
Marden
M
M
Pagnier
J
J
Poyart
C
C
Dodé
C
C
D000595:Amino Acid Sequence; D004262:DNA Restriction Enzymes / Q000032:analysis; D004907:Erythrocyte Deformability; D004911:Erythrocyte Volume; D004912:Erythrocytes / Q000378:metabolism / Q000473:pathology; D006444:Hemoglobin C / Q000032:analysis*; D006448:Hemoglobin J / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007700:Kinetics; D009549:Nigeria; D010100:Oxygen / Q000097:blood; D010375:Pedigree; D010449:Peptide Mapping; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; C056399:hemoglobin J Guantanamo; D006444:Hemoglobin C; D004262:DNA Restriction Enzymes; D010100:Oxygen