Fortina P, Dianzani I, Serra A, Gottardi E, Saglio G, Farinasso L, Piga A, Gabutti V, Camaschella C
Istituto di Clinica Pediatrica, Università degli Studi, Torino, Italy.
Br J Haematol. 1991 Aug;78(4):529-34. doi: 10.1111/j.1365-2141.1991.tb04483.x.
We describe a new deletional form of alpha thalassaemia which encompasses the entire alpha-like globin gene cluster in a 15-year-old boy of Southern Italian descent. The deletion removes approximately 31 kb, the 5'-end point is located approximately 4 kb upstream of the xi gene, while the 3'-end point maps between the alpha 1- and theta 1-globin genes. The interaction of this deletion with the common-alpha 3.7 form gives origin to a classical form of haemoglobin (Hb) H disease in the propositus of this study. Deletional forms of xi alpha-thalassaemia are uncommon in the Mediterranean basin; as for other unusual xi alpha-thalassaemia forms, heterozygotes for this mutation may escape detection in population surveys based on zeta and alpha probes.
我们描述了一种新型α地中海贫血缺失形式，其涵盖了一名祖籍意大利南部的15岁男孩的整个类α珠蛋白基因簇。该缺失片段约为31 kb，5'端位于ζ基因上游约4 kb处，而3'端位于α1和θ1珠蛋白基因之间。此缺失与常见的α3.7形式相互作用，在本研究的先证者中引发了典型形式的血红蛋白（Hb）H病。ζα地中海贫血的缺失形式在地中海盆地并不常见；与其他不寻常的ζα地中海贫血形式一样，这种突变的杂合子在基于ζ和α探针的人群调查中可能未被发现。
