| Autor: |
F, Baklouti, E, Dorléac, L, Morlé, P, Laselve, D, Peyramond, M, Aubry, J, Godet, J, Delaunay |
| Rok vydání: |
1986 |
| Předmět: |
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| Zdroj: |
Blood. 67(4) |
| ISSN: |
0006-4971 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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