Schröter W, Nafz C
Helv Paediatr Acta. 1981;36(6):519-25.
For diagnosis of beta- and beta delta-thalassemia in the first year of life the physiological changes of hemoglobin F and A2 levels occurring in this age group have to be considered. The analysis of the hemoglobin pattern in 29 cases of thalassemia major and 285 cases of thalassemia trait, 47 of them aged less than one year, showed that all cases of homozygous beta-thalassemia aged less than one year could be diagnosed by definitely increased hemoglobin F levels exceeding the normal range for the appropriate age. In children older than ten years and in adults with heterozygous beta-thalassemia, the diagnosis could be made accurately by increased hemoglobin A2 levels in 97 percent. In children between one and ten years only 77 percent and in infants aged less than one year only 55 percent of the cases showed increases hemoglobin A2 levels. In contrast to adults, the hemoglobin F level seems to be helpful for the diagnosis of thalassemia trait. The younger the patient the more is the hemoglobin F level increased above the normal range for the appropriate age. It appears impossible to differentiate between beta- and beta delta-thalassemia trait when hemoglobin A2 is normal or low.
对于一岁以内β地中海贫血和βδ地中海贫血的诊断，必须考虑该年龄组血红蛋白F和A2水平的生理变化。对29例重型地中海贫血和285例地中海贫血携带者（其中47例年龄小于一岁）的血红蛋白模式分析表明，所有年龄小于一岁的纯合子β地中海贫血病例均可通过血红蛋白F水平明显升高且超过相应年龄的正常范围来诊断。在十岁以上儿童和杂合子β地中海贫血成人中，97%可通过血红蛋白A2水平升高准确诊断。在一岁至十岁儿童中，只有77%的病例血红蛋白A2水平升高，而在年龄小于一岁的婴儿中，只有55%的病例血红蛋白A2水平升高。与成人不同，血红蛋白F水平似乎有助于诊断地中海贫血携带者。患者年龄越小，血红蛋白F水平高于相应年龄正常范围的程度就越高。当血红蛋白A2正常或偏低时，似乎无法区分β地中海贫血携带者和βδ地中海贫血携带者。
