Sangre (Barc). 1990 Apr;35(2):102-13.
The results of a programme for the study of atypical familial microcytosis are analysed in this paper. The techniques used were "in vitro" synthesis of globin chains in tritiated leucine-labelled reticulocytes and genetic mapping with different restriction enzymes, plus the usual haematimetric values. Of the 134 syntheses performed, 73 showed alpha/beta ratio lower than 1 (alpha-thalassaemia). The lowest values, alpha/beta ratio of 0.54 +/- 0.14, corresponded to 3 patients with Hb H disease. In general terms, our findings are similar to those reported in the literature. The genetic mapping was performed in 98 patients with alpha-thalassaemia (73 cases with decreased alpha/beta ratio, 2 cases with normal ratio, and 23 relatives). Of the 98 patients, 3 had Hb H disease, 70 corresponded to heterozygous alpha zero-thalassaemia, 11 to homozygous alpha(+)-thalassaemia, and 14 to heterozygous alpha(+)-thalassaemia. The analysis of DNA revealed the heterogeneity of the molecular alterations, the prevalent haplotypes being (- -MED), in 74% of the patients, and (-3.7 alpha), in 100% of the cases. The other alpha zero-thalassaemia mutations found were the deletions (- -SEA) and (- -SPAN) and the "no-deletion" thalassaemias.
本文分析了一项非典型家族性小红细胞症研究项目的结果。所采用的技术包括在氚标记亮氨酸标记的网织红细胞中进行珠蛋白链的“体外”合成、用不同的限制酶进行基因定位，以及常规的血液学指标。在进行的134次合成中，73次显示α/β比值低于1（α地中海贫血）。最低值，即α/β比值为0.54±0.14，对应3例血红蛋白H病患者。总体而言，我们的研究结果与文献报道的相似。对98例α地中海贫血患者（73例α/β比值降低、2例比值正常以及23名亲属）进行了基因定位。在这98例患者中，3例患有血红蛋白H病，70例为杂合子α0地中海贫血，11例为纯合子α(+)地中海贫血，14例为杂合子α(+)地中海贫血。DNA分析揭示了分子改变的异质性，常见的单倍型在74%的患者中为（--MED），在100%的病例中为（-3.7α）。发现的其他α0地中海贫血突变包括缺失（--SEA）和（--SPAN）以及“无缺失”型地中海贫血。
