First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey
نویسندگان
چکیده
Ayça Dilruba Aslanger1, Aynur Akbulut2, Gül Tokgöz3, Sakine Türkmen4, Kanay Yararbaş5 1 Kocaeli Derince Training and Research Hospital, Medical Genetics Department, Kocaeli, Turkey 2 Kocaeli Derince Training and Research Hospital, Department of Pediatrics, Kocaeli, Turkey 3 Kocaeli Derince Training and Research Hospital, Department of Hematology, Kocaeli, Turkey 4 Hemoglobinopathy Screening Center, Child, and Family Planning, Department of Health of Mother, Kocaeli, Turkey 5Düzen Laboratory Group, İstanbul, Turkey
منابع مشابه
A Rare Hemoglobin Variant Which Interfered Hemoglobin A1C Result: Hemoglobin South Florida [β1(NA1)Val>Met, GTG>ATG; HBB: c.4G>A] [Hemoglobin A1c Sonucunu Etkileyen Nadir Hemoglobin Varyantı: 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 th...
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