干扰A1C结果的罕见血红蛋白变异:南佛罗里达血红蛋白(β1(NA1)Val>Met, GTG>ATG;HBB: c.4G >)

IF 0.6 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Turkish Journal of Biochemistry-turk Biyokimya Dergisi Pub Date : 2014-01-01 DOI:10.5505/TJB.2014.27247

A. Celebiler, D. Güleç, N. Uzuncan

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引用次数: 1

摘要

南佛罗里达Hb是一种罕见的血红蛋白β链变异，与任何临床疾病无关。我们报道了一个杂合Hb South Florida (β1(NA1)Val>Met, GTG>ATG;HBB:c.4G>A)在婚前筛查项目中确定的病例。这种血红蛋白变体可以通过高效液相色谱分析和DNA测序确认。在我们的研究中，我们强调了跨学科合作研究在省级基础上对血红蛋白病控制项目成功的重要性。

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

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 (β1(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.

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来源期刊

Turkish Journal of Biochemistry-turk Biyokimya Dergisi 生物-生化与分子生物学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Turkish Journal of Biochemistry (TJB), official journal of Turkish Biochemical Society, is issued electronically every 2 months. The main aim of the journal is to support the research and publishing culture by ensuring that every published manuscript has an added value and thus providing international acceptance of the “readability” of the manuscripts published in the journal.