Cossu G, Manca M, Pirastru M G, Bullitta R, Bosisio A B, Gianazza E, Righetti P G
Am J Hematol. 1982 Sep;13(2):149-57. doi: 10.1002/ajh.2830130207.
As an alternative to the recently proposed screening for beta-thalassemias by isoelectric focusing (IEF) of denatured globin chains in urea-detergent gels [6], IEF of intact hemoglobins, obtained from umbilical cord blood in neonatal units, is reported here. For maximum separation, IEF should be performed in nonlinear pH gradients, in gels containing 0.2 M beta-alanine and 0.2 M 6-amino caproic acid, which flatten the pH gradient around pH 7, thus increasing the resolution between HbA and HbFac. The method can unambiguously detect homozygous and heterozygous beta-thalassemic conditions. A bimodal distribution of HbA at birth has been found: In heterozygous patients, HbA values of 9.02% (range 6.8-9.98%) have been found while in normal newborns HbA levels of 20.34% (range 11.02-30.6%) have been demonstrated.
作为最近提出的通过在尿素 - 洗涤剂凝胶中对变性珠蛋白链进行等电聚焦（IEF）来筛查β地中海贫血的替代方法，本文报道了对新生儿病房中从脐带血获得的完整血红蛋白进行IEF的方法。为了实现最大程度的分离，IEF应在非线性pH梯度中进行，在含有0.2 Mβ-丙氨酸和0.2 M 6-氨基己酸的凝胶中进行，这会使pH 7附近的pH梯度变平，从而提高HbA和HbFac之间的分辨率。该方法可以明确检测纯合子和杂合子β地中海贫血情况。已发现出生时HbA呈双峰分布：在杂合子患者中，发现HbA值为9.02%（范围6.8 - 9.98%），而在正常新生儿中，HbA水平为20.34%（范围11.02 - 30.6%）。
