Hb Marineo [β70（E14）丙氨酸→缬氨酸]：一种血红素袋内发生突变的沉默血红蛋白变体。

Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.

作者信息

Giambona Antonino, Vinciguerra Margherita, Cassarà Filippo, Li Muli Rita, Leto Filippo, Passarello Cristina, Wajcman Henri, Maggio Aurelio

机构信息

Azienda Ospedaliera Vincenzo Cervello, UO Ematologia II, Palermo, Italy.

出版信息

Hemoglobin. 2006;30(2):139-48. doi: 10.1080/03630260600642005.

DOI:10.1080/03630260600642005

PMID:16798637

Abstract

We report a new hemoglobin (Hb) variant, Hb Marineo [beta70(E14)Ala --> Val], found in three generations of a family from West Sicily. The mutation is due to a GCC --> GTC substitution at codon 70 of the beta-globin gene. To date, three mutations at codon 70 of the beta-globin gene have been described, presenting with hemolytic anemia. In our case, no anemia or other alteration of hematological indices were found. Cation exchange high performance liquid chromatography (HPLC) showed a peak in the P2 window (VARIANT I), while a peak was detected by VARIANT II HPLC in the P3 window. Reversed phase HPLC analysis showed an abnormal chain amounting to about 40% of the total beta chains.

摘要

我们报告了一种新的血红蛋白（Hb）变体，即Hb Marineo [β70（E14）丙氨酸→缬氨酸]，在来自西西里岛西部的一个家族的三代人中发现。该突变是由于β-珠蛋白基因第70密码子处发生GCC→GTC替换。迄今为止，已描述了β-珠蛋白基因第70密码子处的三种突变，均表现为溶血性贫血。在我们的病例中，未发现贫血或其他血液学指标改变。阳离子交换高效液相色谱（HPLC）显示在P2窗口（变体I）有一个峰，而变体II HPLC在P3窗口检测到一个峰。反相HPLC分析显示异常链约占总β链的40%。