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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family
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Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family

机译：在土耳其家族中进一步观察血红蛋白氟丹白露（A21（B2）ALA-PRO）

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摘要

Several hemoglobin (Hb) variants have been reported in Turkish population [1-3]. Herein, we represent a nucleotide alteration of the alpha-2 chain variant, Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in an 8-year-old male Turkish child living in Ankara, Turkey. He was admitted to the Hospital Pediatrics Department for routine check-up. His physical examination was normal, and there was no positive consanguinity between his parents. High red blood cell count and low mean corpuscular volume were detected in complete blood count (CBC) (Fig. la). High-performance liquid chromatography (HPLC) showed an asymmetr)f (shoulder formation) in the descending part of AO and in the A2 curve. Levels of HbA, HbA2, and HbF were observed as 93.25%, 3.55%, and 1.07%, respectively (Fig. la). His mother and 6-year-old sister were also screened. Their HPLC chromatograms showed similar pattern (Fig. lb, c).
机译：在土耳其人群[1-3]中报道了几种血红蛋白（HB）变体。 在此，我们代表了α-2链变体的核苷酸改变，血红蛋白氟丹白毛（A21（B2）ALA-PRO）在土耳其安卡拉的8岁男性土耳其儿童中的8岁男性土耳其儿童。 他被录取为医院儿科部门进行常规检查。 他的体检是正常的，他的父母之间没有积极的血缘关系。 在完全血统数（CBC）中检测到高红细胞计数和低平均碎石体积（图1a）。 高效液相色谱（HPLC）在AO和A2曲线中的下降部分中显示出呈渐倍体（肩部）F（肩部）。 HBA，HBA2和HBF的水平分别观察为93.25％，3.55％和1.07％（图1a）。 他的母亲和6岁的妹妹也被筛选了。 它们的HPLC色谱图显示出类似的图案（图1b，c）。

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