Oort M, Heerspink W, Roos D, Bernini L F
Tijdschr Kindergeneeskd. 1981 Dec;49(6):199-207.
Ten newborn infants, all belonging to one family, suffered from severe hemolytic anemia. Four babies died shortly before or after birth, six recovered (one spontaneously, 5 after one or more exchange transfusions). In 5 out of 8 patients a mixed hyperbilirubinemia was observed in the immediate postnatal period, with elevated levels of indirect- as well as direct-reacting bilirubin. After the neonatal period, a slight hypochromic, microcytic anemia persisted, without icterus but with decreased osmotic fragility of the erytrocytes and with target cells in the blood smear. The same hematological picture was observed in one of the parents of each affected baby. All anemic adults belong to one large family; therefore, a dominant mode of inheritance is most likely. Although the hematological findings are suggestive for beta-thalassemia normal HbF and HbA2 levels were observed. In vitro incorporation of radioactive leucine into globin chains in reticulocytes demonstrated defective synthesis of beta chains in the affected adults; in two affected infants the same technique showed defective gamma-chain synthesis as well. Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta-beta-thalassemia, as originally described by Kan et al. (1972).
十个新生儿，均来自同一个家庭，患有严重的溶血性贫血。四个婴儿在出生前后不久死亡，六个康复（一个自发康复，五个在进行一次或多次换血输血后康复）。在8例患者中的5例中，出生后立即观察到混合性高胆红素血症，间接和直接反应胆红素水平均升高。新生儿期过后，出现轻度低色素性小细胞贫血，无黄疸，但红细胞渗透脆性降低，血涂片中有靶形细胞。在每个患病婴儿的一位父母中也观察到了相同的血液学表现。所有贫血成年人都属于一个大家庭；因此，最可能是显性遗传模式。尽管血液学检查结果提示为β地中海贫血，但观察到的HbF和HbA2水平正常。体外将放射性亮氨酸掺入网织红细胞的珠蛋白链中，证明患病成年人的β链合成存在缺陷；在两个患病婴儿中，同样的技术也显示γ链合成存在缺陷。血红蛋白基因分析证明，受影响的家庭成员患有杂合性γ-δ-β地中海贫血，正如Kan等人（1972年）最初所描述的那样。
