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

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.

• Authors: H Wajcman, V Baudin-Chich, J Kister, C Feo, G Gombaud-Saintonge, B Bohn, M Marden, J Pagnier, C Poyart, C Dodé
• Journal: American journal of hematology (Am J Hematol) Vol. 28 Issue 3 Pg. 170-5 (Jul 1988) ISSN: 0361-8609 [Print] United States
• PMID: 2841847 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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