Wainscoat J S, Old J M, Wood W G, Trent R J, Weatherall D J
Br J Haematol. 1984 Oct;58(2):353-60. doi: 10.1111/j.1365-2141.1984.tb06094.x.
The molecular basis of delta beta thalassaemia in an Indian family is shown here to be due to a previously undescribed deletion within the beta globin gene complex. Starting 3 kilobases from the 3' end of the A gamma gene, the deletion removes the delta and beta globin genes and continues to an unknown extent in the 3' direction. Heterozygotes for this deletion have about 25% Hb F with a G gamma:A gamma ratio of 70:30 while interaction with beta+ thalassaemia results in the clinical picture of thalassaemia intermedia.
一个印度家庭中δβ地中海贫血的分子基础在此被证明是由于β珠蛋白基因复合体中一个先前未描述的缺失。该缺失从Aγ基因3'端3千碱基处开始，移除了δ和β珠蛋白基因，并在3'方向上延伸至未知长度。这种缺失的杂合子有大约25%的Hb F，Gγ:Aγ比例为70:30，而与β+地中海贫血相互作用则导致中间型地中海贫血的临床表现。
