Aguzzi S, Vullo C, Barrai I
Ann Hum Genet. 1978 Oct;42(2):153-60. doi: 10.1111/j.1469-1809.1978.tb00645.x.
The reproductive performance of 100 families segregating for Cooley's anaemia was studied and compared to the performance of 127 control families. The control families were those of the sibs of the parents in the segregating families. No differences was found in the variables which might affect fertility and fecundity in control and thalassaemic families, although a different shape of the distribution of the number of births per family was found; the distribution had a higher variance in thalassaemics than in controls. The interval between the birth of a normal and an affected child is significantly longer than the interval between the birth of an affected child and a subsequent one. It was thought that these findings are indicative of reproductive compensation in families segregating for Cooley's anaemia, and of the moderate effect of the genetic counselling given to them.
对100个因库利贫血而分离的家庭的生殖表现进行了研究,并与127个对照家庭的表现进行了比较。对照家庭是分离家庭中父母的兄弟姐妹的家庭。在对照家庭和地中海贫血家庭中,未发现可能影响生育力和生殖力的变量存在差异,尽管发现每个家庭出生人数的分布形状不同;地中海贫血患者家庭的分布方差高于对照家庭。正常孩子和患病孩子出生之间的间隔明显长于患病孩子与随后出生孩子之间的间隔。据认为,这些发现表明因库利贫血而分离的家庭存在生殖补偿,以及给予他们的遗传咨询产生了适度效果。