Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new
variety of beta+-thalassemia intermedia associated with delta degree-
thalassemia
F Baklouti, E Dorleac, L Morle, P Laselve, D Peyramond, M Aubry, J Godet and J Delaunay
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 degrees-thalassemia. The chromosome carrying these
mutations is characterized by the DNA haplotype I.
Volume 67,
Issue 4,
pp. 957-961,
04/01/1986
Copyright © 1986 by The American Society of Hematology