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Homozygous hemoglobin knossos a new variety of beta positive thalassemia intermedia associated with delta o thalassemia


, : Homozygous hemoglobin knossos a new variety of beta positive thalassemia intermedia associated with delta o thalassemia. Blood 67(4): 957-961

Hb Knossos (.beta. 27 (B9) Ala .fwdarw. 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.o-thalassemia. The chromosome carrying these mutations is characterized by the DNA haplotype I.

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