Camaschella C, Ciocca-Vasino M A, Guerrasio A, Balegno G, Barberis E, Delponte D, Saglio G
Acta Haematol. 1979;61(5):272-7. doi: 10.1159/000207671.
Hematological data, biosynthetic studies and gamma-chain structure of three heterozygotes for HPFH Greek type and of two heterozygotes for both HPFH and beta-thalassemia are reported. In the HPFH heterozygotes, hematological data were normal and globin chain synthesis balanced, while subjects carrying both HPFH and beta-thalassemia presented a thalassemic picture and the same degree of alpha/non-alpha-chain imbalance as the beta-thalassemia carrier belonging to the same family. The gamma-chain composition studies showed only the presence of Agamma-chains in HPFH; in the association HPFH/beta-thalassemia also some Ggamma and Tgamma were found. The mechanisms determining the high production of Hb F in the association HPFH/beta-thalassemia are discussed.
本文报道了3例希腊型遗传性胎儿血红蛋白持续存在症（HPFH）杂合子以及2例同时患有HPFH和β地中海贫血的杂合子的血液学数据、生物合成研究结果和γ链结构。在HPFH杂合子中，血液学数据正常，珠蛋白链合成平衡，而同时患有HPFH和β地中海贫血的受试者呈现出地中海贫血的症状，且α/非α链失衡程度与同一家族中的β地中海贫血携带者相同。γ链组成研究表明，HPFH中仅存在Aγ链；在HPFH/β地中海贫血的组合中也发现了一些Gγ和Tγ链。本文还讨论了在HPFH/β地中海贫血组合中决定Hb F高产量的机制。
