Aicardi G, Naselli A, Sciarratta G V, Sansone G
Blut. 1979 Jun 18;38(6):473-8. doi: 10.1007/BF01013508.
The case of a girl affected by a Colley's disease of moderate severity is reported. A brother and a sister had levels of Hb F respectively of 18% and 45%. The father showed all the hematological signs of heterozygous thalassemia. The mother, however, was normal so far as osmotic fragility, red cell morphology, and Hb A2 level are concerned. In vitro hemoglobin chains biosynthesis was performed in all the subjects. Both the parents showed an alfa/non alfa ratio typical of beta thalassemia. Therefore, the mother has to be considered a "silent" carrier of the trait. The daughters and the son have a less severe Colley disease originating by such a double heterozygosity.
报告了一名患有中度柯利氏病的女孩病例。一个哥哥和一个姐姐的Hb F水平分别为18%和45%。父亲表现出杂合子地中海贫血的所有血液学体征。然而，就渗透脆性、红细胞形态和Hb A2水平而言，母亲是正常的。对所有受试者进行了体外血红蛋白链生物合成检测。父母双方均表现出典型的β地中海贫血的α/非α比率。因此，母亲必须被视为该性状的“沉默”携带者。女儿和儿子患有由这种双重杂合性引起的较轻的柯利氏病。
