Hb F-Avellino [Gγ41(C7)Phe→Leu; HBG2: c.124 T>C]: A New Hemoglobin Variant Observed In A Healthy Newborn

被引：1
|
作者：
Pirastru, Monica [1 ]
Mereu, Paolo [1 ]
Trova, Sandro [1 ]
Masala, Bruno [1 ]
Manca, Laura [1 ]
机构：
[1] Univ Sassari, Dipartimento Sci Biomed, I-07100 Sassari, Italy
来源：
HEMOGLOBIN | 2016年 / 40卷 / 01期
关键词：
Hemoglobin (Hb) variant; Hb F-Avellino; Phe41(C7) residue; (G)-globin gene; CYANOSIS;
D O I：
10.3109/03630269.2015.1106413
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Here we describe Hb F-Avellino [(G)41(C7)PheLeu; HBG2: c.124T>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) gene showed a T to C transition at codon 41 (TTC>CTC) corresponding to the PheLeu substitution. Normal functional properties have been hypothesized.
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收藏
页码：61 / 63
页数：3
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