Two Families Showing Interaction of Haemoglobin C or Thalassaemia with High Foetal Haemoglobin in Adults*
Two Families Showing Interaction of Haemoglobin C or Thalassaemia with High Foetal Haemoglobin in Adults*
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两个家庭显示血红蛋白 C 或地中海贫血与成人高胎儿血红蛋白的相互作用*
作者：
A. Kraus;B. Koch;L. Burckett
杂合子镰状细胞特征和纯合子镰状细胞贫血的血红蛋白组成的区别在于，前者既有正常成人血红蛋白(A)，也有镰状细胞血红蛋白(S)，而后者只有血红蛋白S和少量的胎儿血红蛋白(F)。在双杂合子条件下，当一个人是镰状细胞特征携带者（a +S），并且另外拥有一个地中海贫血基因，导致血红蛋白a的产生受到抑制，血红蛋白a的比例降低，在某些情况下可能低到无法通过电泳方法检测。在这种被称为镰状细胞地中海贫血的情况下，患者患有改良的镰状细胞贫血，红细胞显示地中海贫血的形态学证据。Edington和Lehmann (1955)， Jacob和Raper (1958)， Went和Maclver (1958)， Herman和Conley（1960）报道了第三种导致血红蛋白S + F模式的疾病。在每个病例中，家庭研究排除了有关人员是镰状细胞纯合子的可能性。无法确定是血红蛋白F遗传代替了血红蛋白A，还是由于血红蛋白A的产生受到抑制而增加，这被认为发生在地中海贫血中。这些人没有其他地中海贫血的特征，如小红细胞血症、血红蛋白A2水平升高和贫血。因此Lehmann（1959）将这种现象描述为“非微红细胞性地中海贫血”（N.M.T.）。家族研究表明，镰状细胞血红蛋白的遗传和血红蛋白F水平的升高是分离的。在某些情况下，父母的血红蛋白组成在一个是A+F，在另一个是A+S；另一些后代要么遗传了血红蛋白F水平升高而没有血红蛋白S，要么遗传了血红蛋白S而没有血红蛋白F。只有一次报道（Edington和Lehmann， 1955）后代从这种血红蛋白S + F的父亲那里遗传了血红蛋白a基因；然而，并不能排除错误的亲子关系。其他关于成人血红蛋白S+F无贫血的孤立病例的报道没有得到家庭研究的支持（Neel et al., 1956; Griggs and Harris, 1956）。我们观察了两个美国黑人血统的家庭，其中一个家庭遗传了N.M.T.与血红蛋白C的结合，另一个家庭遗传了典型的地中海贫血。
The difference between the haemoglobin composition in heterozygous sickle-cell trait and in homozygous sickle-cell anaemia is that, in the first, both normal adult haemoglobin (A) and sickle-cell haemoglobin (S) are found, whereas in the latter only haemoglobin S together with smaller amounts of foetal haemoglobin (F) is present. In the double heterozygous condition when the person is a sickle-cell-trait carrier (A+S) and possesses, in addition, a gene for thalassaemia, which causes suppression of haemoglobin-A production, the proportion of haemoglobin A is lowered and may in some instances be so low as to escape detection by electrophoretic methods. In this condition, which is known as sickle-cell thalassaemia, the patient suffers from a modified sickle-cell anaemia, and the red cells show morphological evidence of thalassaemia. Edington and Lehmann (1955), Jacob and Raper (1958), Went and Maclver (1958), and Herman and Conley (1960) have reported yet a third type of disorder which causes a haemoglobin S + F pattern. In each case family studies excluded the possibility that the persons concerned were sickle-cell homozygotes. It was not possible to decide whether haemoglobin F was inherited in place of haemoglobin A or whether it had been increased as a consequence of suppressed production of haemoglobin A, as is thought to occur in thalassaemia. No other features of thalassaemia, such as microcythaemia, increased level of haemoglobin A2, and anaemia, were present in these persons. Hence Lehmann (1959) has described this phenomenon as " nonmicrocythaemic thalassaemia " (N.M.T.). Family studies showed that the inheritance of sickle-cell haemoglobin and the increased level of haemoglobin F were segregated. In some instances the haemoglobin composition in the parents was A+F in one and A+S in the other; in others the offspring inherited either the increased level of haemoglobin F without haemoglobin S or haemoglobin S without haemoglobin F. Only once was it reported (Edington and Lehmann, 1955) that an offspring had inherited a gene for haemoglobin A from such a haemoglobin S + F father; however, mistaken paternity had not been excluded. Other reports on isolated cases of adults with haemoglobin S+F without anaemia have not been supported by family studies (Neel et al., 1956; Griggs and Harris, 1956). We have observed two families of American negro origin in whom N.M.T. was inherited in combination with haemoglobin C in one and with classical thalassaemia in the other.