Trent R J, Wainscoat J S, Huehns E R, Clegg J B, Weatherall D J
Br J Haematol. 1982 Nov;52(3):511-6. doi: 10.1111/j.1365-2141.1982.tb03921.x.
A symptomless Iranian patient homozygous for beta thalassaemia has haematological changes similar to the beta thalassaemia trait. This remarkably mild phenotype is probably the result of coexistent alpha thalassaemia and increased gamma chain synthesis. Restriction endonuclease mapping analysis of the beta globin genes indicates that the patient is homozygous for a single nucleotide substitution at the 5' donor splice junction in the second intervening sequence of the beta globin gene. No other changes were observed in the non-alpha globin gene cluster. It seems unlikely that the augmented gamma chain synthesis in this patient is related to the molecular defect responsible for this beta o thalassaemia.
一名无症状的伊朗β地中海贫血纯合子患者具有与β地中海贫血特征相似的血液学变化。这种异常轻微的表型可能是由于共存的α地中海贫血和γ链合成增加所致。β珠蛋白基因的限制性内切酶图谱分析表明，该患者在β珠蛋白基因第二个内含子序列的5'供体剪接连接处存在单个核苷酸取代的纯合子。在非α珠蛋白基因簇中未观察到其他变化。该患者γ链合成增加似乎不太可能与导致这种β0地中海贫血的分子缺陷有关。
