Crawford D H, Halliday J W, Summers K M, Bourke M J, Powell L W
Joint Liver Program, University of Queensland, Brisbane, Australia.
Hepatology. 1993 May;17(5):833-7.
Phenotypic concordance between siblings has been demonstrated in some inherited conditions, and such data provide strong evidence that the severity of disease is affected by genetic factors. We assessed the concordance of liver iron stores between siblings in 22 sibling pairs (15 same-sex pairs and 7 opposite-sex pairs) with genetic hemochromatosis. In this study population a wide range was found in the hepatic iron concentration and the hepatic iron index (32 to 833 mumol/gm dry wt and 1.65 to 14.4, respectively), which could not be accounted for by differing exposure to the environmental factors that influence iron stores. Despite the large variation of hepatic iron concentration within the group, siblings of identical sex had accumulated similar amounts of liver iron. A highly significant correlation for hepatic iron concentration (r = 0.81) and hepatic iron index (r = 0.70) was found between siblings of the same sex. The hepatic iron concentration and the hepatic iron index of one sibling was less than 50% of the other in only three same-sex sibling pairs. In each instance, reasons existed (blood donation, age at diagnosis and human leukocyte antigen nonidentity) for this discordance. In six of the seven opposite-sex pairs, the woman had lower hepatic iron stores than her male sibling, consistent with previous studies on the extent of iron overload in women and its modification by physiological blood loss.(ABSTRACT TRUNCATED AT 250 WORDS)
在一些遗传性疾病中已证实兄弟姐妹之间存在表型一致性，此类数据有力地证明了疾病严重程度受遗传因素影响。我们评估了22对患有遗传性血色素沉着症的兄弟姐妹（15对同性和7对异性）肝脏铁储存的一致性。在该研究人群中，肝铁浓度和肝铁指数范围广泛（分别为32至833 μmol/g干重和1.65至14.4），这无法用影响铁储存的环境因素暴露差异来解释。尽管组内肝铁浓度差异很大，但同性别的兄弟姐妹积累的肝脏铁量相似。在同性别的兄弟姐妹之间发现肝铁浓度（r = 0.81）和肝铁指数（r = 0.70）具有高度显著的相关性。在仅三对同性别的兄弟姐妹中，一个兄弟姐妹的肝铁浓度和肝铁指数低于另一个的50%。在每种情况下，这种不一致都有原因（献血、诊断时的年龄和人类白细胞抗原不一致）。在7对异性对中的6对中，女性的肝脏铁储存低于其男性兄弟姐妹，这与先前关于女性铁过载程度及其因生理性失血而改变的研究一致。（摘要截断于250字）
