Pirastru Monica, Mereu Paolo, Trova Sandro, Masala Bruno, Manca Laura
a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
Hemoglobin. 2016;40(1):61-3. doi: 10.3109/03630269.2015.1106413. Epub 2015 Nov 16.
Here we describe Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband's hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the (G)γ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized.
在此，我们描述了Hb F-Avellino [（G）γ41（C7）苯丙氨酸→亮氨酸；HBG2：c.124 T>C]，这是在一名健康新生儿中观察到的一种新的血红蛋白（Hb）变体。通过异丙醇试验发现先证者的溶血产物有轻度不稳定性。采用色谱法和电泳法评估该变体的出现情况。（G）γ基因的DNA测序分析显示密码子41处发生了T到C的转换（TTC>CTC），对应苯丙氨酸→亮氨酸替代。已推测其具有正常的功能特性。
