title: [Clinicohematologic effects of hemoglobin Altdorf (alpha 2 beta 2 135 Ala replaced by Pro)].
abstract: Hb Altdorf alpha 2 beta 2 135 Ala leads to Pro is an unstable variant occurring near Lecce in Italy. The abnormal hemoglobin does not separate from Hb A in the electrophoresis. In vitro a marked Heinz body formation is produced with phenylhydrazin. In heterozygous individuals an almost compensated hemolysis and a slight splenomegaly are found. Hemolysis can be aggravated by exogenous factors. A rather severe hemolysis was induced by a viral infection in a 3 years old girl.
mesh_terms: D000293:Adolescent; D000409:Alanine / Q000032:analysis; D002675:Child, Preschool; D004912:Erythrocytes / Q000187:drug effects; D005260:Female; D006366:Heinz Bodies; D006453:Hemoglobinopathies / Q000097:blood* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006461:Hemolysis; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010659:Phenylhydrazines / Q000494:pharmacology; D011392:Proline / Q000032:analysis
chemical_list: D006455:Hemoglobins, Abnormal; D010659:Phenylhydrazines; D011392:Proline; D000409:Alanine
vernacular_title: Klinisch-hämatologische Auswirkungen von Hämoglobin Altdorf (alpha 2 beta 2 135 Ala ersetzt durch Pro).