A Rare Hemoglobin Variant Which Interfered Hemoglobin A1C Result: Hemoglobin South Florida [β1(NA1)Val>Met, GTG>ATG; HBB: c.4G>A]

被引：0
|
作者：
Celebiler, Aydan [1 ]
Gulec, Derya [2 ]
Uzuncan, Nuriye [3 ]
机构：
[1] Izmir Univ, Tip Fak, Med Pk Hastanesi, Klin Biyokimya Bolumu, Izmir, Turkey
[2] Tepecik Egitim & Arastirma Hastanesi, Doku Tipi Lab, Izmir, Turkey
[3] Izmir Egitim & Arastirma Hastanesi, Izmir, Turkey
来源：
TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI | 2014年 / 39卷 / 02期
关键词：
Hb South Florida; hemoglobinopathy; abnormal hemoglobin; GLYCOHEMOGLOBIN; ASSAYS;
D O I：
10.5505/tjb.2014.27247
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：
Hb South Florida is a rare hemoglobin beta chain variant that is not associated with any clinical disorder. We report a heterozygous Hb South Florida [beta 1(NA1)Val>Met, GTG>ATG; HBB:c.4G>A] case determined during a premarital screening program. This hemoglobin variant can be identified with high performance liquid chromatography analysis confirmed with DNA sequencing. We emphasize in our study the importance of an interdisciplinary collaborative study at the provincial basis for the success of the hemoglobinopathy control program.
引用
收藏
页码：226 / 230
页数：5
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