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Hemoglobin J Guantanamo [α 2 β 2 128 (H6) Ala→Asp] in association with hemoglobin C and α‐thalassemia in a family from Benin
Author(s) -
Wajcman H.,
BaudinChich V.,
Kister J.,
Feo C.,
GombaudSaintonge G.,
Bohn B.,
Marden M.,
Pagnier J.,
Poyart C.,
Dodé C.,
Galacteros F.,
Blouquit Y.,
Cynober T.,
Tchernia G.
Publication year - 1988
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830280308
Subject(s) - hemoglobin , bohr effect , thalassemia , cooperativity , hemoglobinopathy , hemoglobin c , hemoglobin variants , medicine , chemistry , hemolytic anemia , biochemistry , oxygen–haemoglobin dissociation curve
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 α‐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.