Baklouti F, Dorléac E, Morlé L, Laselve P, Peyramond D, Aubry M, Godet J, Delaunay J
Blood. 1986 Apr;67(4):957-61.
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.
血红蛋白克诺索斯（β27（B9）丙氨酸→丝氨酸）是最近发现的一种具有β地中海贫血特性的血红蛋白变异体（1,2）。我们报道了首例纯合子病例。先证者是一名19岁男性，来自阿尔及利亚东北部，但与其他携带血红蛋白克诺索斯的阿尔及利亚人无亲缘关系。他患有β（+）-中间型地中海贫血综合征，包括小细胞低色素性贫血、脾脏肿大和网织红细胞数量增加。β链合成的减少很明显（α/非α：2.76）。含有血红蛋白克诺索斯的全细胞具有极低的氧亲和力（P50：38毫米汞柱）。先证者还患有纯合子δ（0）-地中海贫血。携带这些突变的染色体以DNA单倍型I为特征。
