Hemoglobin Knossos: a clinical, laboratory, and epidemiological study.
Hb Knossos is a beta-chain variant (beta 27 Ser----Ala) that is unrecognizable by conventional separation methods but detectable by globin electrophoresis on urea-Triton X-acrylamide gels or by IEF. Hb Knossos is characterized by reduced synthesis and by interaction with beta-thalassemia, in which the double heterozygotes display typical features of thalassemia intermedia. The present paper summarizes the salient genetic, clinical, and biochemical characteristics of five such cases hitherto identified in three families along with the same features on 12 heterozygous Hb Knossos carriers. Hb Knossos displays a slightly decreased oxygen affinity; this factor may compensate in part for the severe anemia of the double heterozygotes. Hb Knossos is relatively rare in our population, since a prospective survey on 610 individuals has failed to disclose any heterozygotes. However, the mutation appears to have spread over the Mediterranean countries and may be more common elsewhere.
D000293:Adolescent; D000328:Adult; D004163:Diphosphoglyceric Acids / Q000097:blood; D004905:Erythrocyte Aging; D004913:Erythrocytes, Abnormal / Q000473:pathology; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007526:Isoelectric Point; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics* / Q000473:pathology
D004163:Diphosphoglyceric Acids; D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos; D010100:Oxygen