Hb J-布达[α61（E10）赖氨酸→天冬酰胺，AAG>AAT]的血液学和分子特征
Hematological and Molecular Characterization of Hb J-Buda [α61(E10)Lys → Asn, AAG > AAT].
作者信息
Panyasai Sitthichai, Permsripong Nopphadol, Jaiping Kanokwan, Khantarag Pisuttinee, Pornprasert Sakorn
机构信息
School of Allied Health Sciences, University of Phayao, Phayao, Thailand.
Uttaradit Hospital, Uttaradit, Thailand.
出版信息
Indian J Hematol Blood Transfus. 2016 Jun;32(Suppl 1):311-4. doi: 10.1007/s12288-016-0641-7. Epub 2016 Jan 23.
Hemoglobin (Hb) J-Buda [α61(E10)Lys → Asn, AAG > AAT] is a very rare α-chain variant found in South-East Asia. We analyzed hematological parameters and provided a rapid molecular analysis method for detection of this hemoglobinopathy in two Thai women who had severe microcytic anemia with Hb and MCV <70 g/L and 80 fL, respectively. The HPLC revealed an abnormal Hb peak eluted ahead of HbA at retention time of 1.91-1.98 min. On CE, the abnormal Hb peak was observed at the electrophoretic zone 12 which corresponded to Hb Bart's. The DNA sequencing revealed the AAG → AAT mutation at codon 61 for Hb J-Buda on one allele of the α1-globin gene. The developed Allele-specific PCR (ASPCR) showed the 455 bp amplified fragment from Hb J-Buda allele. Thus, understanding of hematological characterizations and the developed ASPCR for diagnosis of Hb J-Buda are essential for genetic counseling of this hemoglobinopathy.
血红蛋白J-布达[α61（E10）赖氨酸→天冬酰胺，AAG > AAT]是在东南亚发现的一种非常罕见的α链变体。我们分析了血液学参数，并为两名患有严重小细胞贫血的泰国女性提供了一种快速分子分析方法，她们的血红蛋白（Hb）和平均红细胞体积（MCV）分别<70 g/L和80 fL。高效液相色谱法（HPLC）显示在保留时间1.91 - 1.98分钟时，有一个异常的Hb峰在HbA之前洗脱出来。在毛细管电泳（CE）中，在对应于Hb Bart's的电泳区12观察到异常的Hb峰。DNA测序显示在α1-珠蛋白基因的一个等位基因上，Hb J-布达的第61密码子存在AAG→AAT突变。所开发的等位基因特异性PCR（ASPCR）显示从Hb J-布达等位基因扩增出455 bp的片段。因此，了解血液学特征以及所开发的用于诊断Hb J-布达的ASPCR对于这种血红蛋白病的遗传咨询至关重要。
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