Differences between individuals with hemoglobins Istanbul and Saint-Etienne (alpha 2 beta 2 92F8 His replaced by Gln).
The unstable hemoglobins Istanbul and Saint-Etienne have the same amino acid substitution (alpha 2 beta 2 92F8 His leads to Gln). Despite this, there are some clinical and hematological differences between the individual with Hb Istanbul and the one with Hb Saint-Etienne. These are: (1) the clinical course of the patient with Hb Istanbul before splenectomy was more severe when compared with that of the individual with Hb Saint-Etienne; (2) although Hb F was found within normal range in the individual with Hb Istanbul, a high level of Hb F (19%) was observed in the patient with Hb Saint-Etienne. The alkali-resistant Hb found in the former was of adult type and in the latter case it was of fetal type. The possible explanations for these differences are discussed.
D000328:Adult; D000596:Amino Acids / Q000097:blood; D002648:Child; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D013156:Splenectomy
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin