[A new case of hemoglobin G Georgia (author's transl)].
A new case of hemoglobin G Georgia (alpha95 Pro yields Leu) is described in a portuguese patient with lymph node tuberculosis. The patient had a slight anaemia with haemolytic crises and moderate splenomegaly. The electrophoretic mobility of this unstable, abnormal haemoglobin was slower than that of Hb S. The percentage of the major (alpha2 G beta2) and the minor (alpha2 G delta2) abnormal components was determined by DEAE-sephadex chromatography and was 18% and 1% respectively. Structural analysis showed the replacement of a proline residue in position 95 (G) in the alpha chain by a leucine residue. This residue alpha 95 interferes with the alpha 1-bêta 2 contact. Functional studies have shown an increased oxygen affinity, a reduced hem-hem interaction and a normal Bohr effect.
D000743:Anemia, Hemolytic / Q000209:etiology; D005602:France; D005845:Georgia; D006453:Hemoglobinopathies / Q000150:complications* / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006801:Humans; D007930:Leucine / Q000032:analysis; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D010375:Pedigree; D011174:Portugal / Q000208:ethnology; D011392:Proline / Q000032:analysis; D011487:Protein Conformation; D013163:Splenomegaly / Q000209:etiology; D014388:Tuberculosis, Lymph Node / Q000150:complications
D006455:Hemoglobins, Abnormal; D011392:Proline; D007930:Leucine
Un nouveau cas d'hémoglobine G Georgia