Galanello R, Barella S, Maccioni L, Paglietti E, Melis M A, Rosatelli M C, Argiolu F, Cao A
Istituto di Clinica e Biologia Eta' Evolutiva, Universita' Studi, Cagliari, Italy.
Br J Haematol. 1989 Aug;72(4):561-6. doi: 10.1111/j.1365-2141.1989.tb04324.x.
This study shows a marked and protracted activation of HbF synthesis in homozygous beta.-thalassaemia patients transplanted from HLA identical siblings heterozygous for beta-thalassaemia, as compared to patients transplanted from normal donors. HbF synthesis in recipients was much higher in relation to the corresponding bone marrow donor values either normal or heterozygous for beta thalassaemia. gamma-chain synthesis and G gamma/A gamma ratio were also studied in peripheral blood BFU-E from recipients and their donors. BFU-E from donors heterozygous for beta-thalassaemia showed higher gamma chain synthesis as compared to normal donors. Peripheral blood BFU-E gamma/beta + gamma ratios and G gamma percentage were higher in recipients than in their corresponding donors both normal or heterozygotes. The marked and protracted reactivation of HbF synthesis in recipients of heterozygous beta-thalassaemia bone marrow most likely results from an increased erythropoietic stress on erythroid progenitors. In order to obtain adequate Hb levels heterozygous beta-thalassaemia bone marrow should produce more red blood cells to compensate for the low MCH. The magnitude of activation of HbF synthesis was very variable. This variability may result from inherited differences in the capacity of reactivation of HbF synthesis of red cell progenitors from heterozygous beta-thalassaemia under stressed erythropoiesis.
本研究表明，与接受正常供体移植的患者相比，接受来自β地中海贫血杂合子的 HLA 同型同胞移植的纯合子β地中海贫血患者，其 HbF 合成呈现显著且持久的激活。与相应的骨髓供体（无论是正常还是β地中海贫血杂合子）的值相比，受者的 HbF 合成要高得多。还对受者及其供体外周血 BFU-E 中的γ链合成和 Gγ/Aγ 比值进行了研究。与正常供体相比，β地中海贫血杂合子供体的 BFU-E 显示出更高的γ链合成。受者外周血 BFU-E 的γ/(β + γ) 比值和 Gγ 百分比高于其相应的供体（正常或杂合子）。杂合子β地中海贫血骨髓受者中 HbF 合成的显著且持久的重新激活最可能是由于红系祖细胞上的红细胞生成应激增加所致。为了获得足够的 Hb 水平，杂合子β地中海贫血骨髓应产生更多的红细胞以补偿低 MCH。HbF 合成的激活程度差异很大。这种变异性可能源于应激红细胞生成条件下杂合子β地中海贫血红细胞祖细胞 HbF 合成重新激活能力的遗传差异。
