Hall F W, Lundgrin D B
Am J Clin Pathol. 1987 Mar;87(3):389-91. doi: 10.1093/ajcp/87.3.389.
Alpha-thalassemia can be diagnosed in the neonate based on the level of Bart's Hemoglobin (HbB) in cord blood. This level corresponds to the degree of alpha-gene deletion. Thus, the extent of the alpha-thalassemia carrier state can be determined. This is important for genetic counseling. Because HbB is present only until a child is six months of age, and the hematologic manifestations of the carrier state may be mild, early detection is important. This study identified a logarithmic relationship between the mean corpuscular volume (MCV) and HbB. Additionally, a discrimination level of 93.5 fL. was calculated to screen for neonates that required evaluation with hemoglobin electrophoresis to identify two- and possibly three-gene deletion alpha-thalassemia. The red blood cell indices were found not to be useful in identifying patients with a one-gene deletion alpha-thalassemia.
α地中海贫血可根据脐血中Bart血红蛋白（HbB）水平在新生儿期进行诊断。该水平与α基因缺失程度相对应。因此，可以确定α地中海贫血携带者状态的程度。这对遗传咨询很重要。由于HbB仅在儿童六个月大之前存在，且携带者状态的血液学表现可能较轻，早期检测很重要。本研究确定了平均红细胞体积（MCV）与HbB之间的对数关系。此外，计算出93.5 fL的鉴别水平，以筛查需要进行血红蛋白电泳评估以确定双基因和可能三基因缺失α地中海贫血的新生儿。发现红细胞指数对识别单基因缺失α地中海贫血患者无用。
