Clegg J B, Metaxatou-Mavromati A, Kattamis C, Sofroniadou K, Wood W G, Weatherall D J
Br J Haematol. 1979 Dec;43(4):521-36. doi: 10.1111/j.1365-2141.1979.tb03785.x.
Haemoglobin F has been isolated from the red cells of individuals with the Greek form of hereditary persistence of fetal haemoglobin (HPFH), and the glycine/alanine composition of the gamma CB3 peptides determined. In contrast to previous reports we have shown that the Hb F of the Greek HPFH heterozygotes contains significant amounts of G gamma chains and circumstantial evidence indicates that these are the products of the same chromosome that carries the Greek HPFH determinant. Hence this chromosome must be directing the synthesis of G gamma, A gamma and (probably) beta and delta chains, thus implying that the Greek form of HPFH does not result from a deletion involving the globin chain structural genes. Analysis of the levels and structure of Hb F from the Greek HPFH heterozygotes and from separated cell populations from the Greek HPFH/beta thalassaemia compound heterozygotes indicate that the Greek HPFH determinant, while allowing an overall increase in gamma chain synthesis, is not the sole factor determining the absolute amount of Hb F production on a cellular basis.
已从患有希腊型胎儿血红蛋白遗传性持续存在（HPFH）的个体的红细胞中分离出血红蛋白F，并测定了γCB3肽的甘氨酸/丙氨酸组成。与先前的报道相反，我们发现希腊HPFH杂合子的Hb F含有大量的Gγ链，间接证据表明这些是携带希腊HPFH决定簇的同一条染色体的产物。因此，这条染色体必定指导着Gγ、Aγ以及（可能）β和δ链的合成，这意味着希腊型HPFH并非由涉及珠蛋白链结构基因的缺失所致。对希腊HPFH杂合子以及希腊HPFH/β地中海贫血复合杂合子分离细胞群体中Hb F的水平和结构分析表明，希腊HPFH决定簇虽然能使γ链合成总体增加，但并非在细胞基础上决定Hb F产生绝对量的唯一因素。
