Kelleher J F, Schwartz E
Am J Pediatr Hematol Oncol. 1979 Spring;1(1):15-7.
Heterozygosity for beta-thalassemia is usually characterized by hypochromia, microcytosis, mild anemia, and increased percentage of Hb A2, and normal or mildly increased Hb F. We have studied an unusual type of beta-thalassemia with typical morphologic abnormalities but normal levels of Hb A2 and Hb F, with diagnosis confirmed by globin synthesis studies. The results indicate that globin synthesis studies may be necessary when the cause of hypochromia and microcytosis cannot be clearly determined by hemoglobin quantitation and electrophoresis and other standard clinical tests.
β地中海贫血杂合子通常表现为低色素性、小红细胞性、轻度贫血、Hb A2百分比增加,以及Hb F正常或轻度增加。我们研究了一种不寻常的β地中海贫血类型,其具有典型的形态学异常,但Hb A2和Hb F水平正常,通过珠蛋白合成研究确诊。结果表明,当血红蛋白定量、电泳和其他标准临床检查无法明确确定低色素性和小红细胞性的原因时,可能需要进行珠蛋白合成研究。