Hemoglobin J Guantanamo [α2β2 128 (H6) Ala→Asp] in association with hemoglobin C and α-thalassemia in a family from Benin

✍ Scribed by H. Wajcman; V. Baudin-Chich; J. Kister; C. Feo; G. Gombaud-Saintonge; B. Bohn; M. Marden; J. Pagnier; C. Poyart; C. Dodé; F. Galacteros; Y. Blouquit; T. Cynober; G. Tchernia

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 568 KB
• Volume: 28
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/ajh.2830280308

✦ Synopsis

Hemoglobin J (HbJ), Guantanamo, which had been described but once in the literature, was found in a tamily originating from Benin; this second case was found to be in association with hemoglobin C (HbC) and a-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.