title: Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.
abstract: Hb Knossos (beta 27 (B9) Ala----Ser) is a recently discovered hemoglobin variant endowed with beta-thalassemic properties (1,2) We present the first homozygous cases. The propositus, a 19-year-old man is originally from northeast Algeria, but is unrelated to other Algerians who have hemoglobin Knossos. He has a beta(+)-thalassemia intermedia syndrome, including microcytic, hypochromic anemia, enlargement of the spleen, and an increase in the number of reticulocytes. The reduction of beta-chain synthesis is pronounced (alpha/non alpha:2.76). Whole cells containing Hb Knossos have a dramatically low oxygen affinity (P50:38 mm Hg). The propositus also has homozygous delta(0)-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.
mesh_terms: D000328:Adult; D000462:Algeria; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006441:Hemoglobin A / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000145:classification / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos; D006441:Hemoglobin A