Lefranc G, Lefranc M P, Seger J, Salier J P, Chakhachiro L, Loiselet J
Hum Genet. 1981;58(3):294-7. doi: 10.1007/BF00294926.
Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype of these apparently healthy individuals was Hp2/Hp2. These preliminary data might suggest a defect in control of gene expression by steroid hormones.
低结合珠蛋白血症和无结合珠蛋白血症在三代人中出现，主要发生在一个家族的男性成员身上。在大多数女性亲属中也检测到少量的结合珠蛋白。溶血 性贫血似乎有可能，且葡萄糖 6 磷酸脱氢酶（G.6.P.D.）活性正常。这些表面健康个体的可能基因型为 Hp2/Hp2。这些初步数据可能提示类固醇激素对基因表达的控制存在缺陷。
