National Institute of Immunohaematology (I.C.M.R.), Mumbai 400 012, India.
Eur J Clin Invest. 2010 Mar;40(3):226-32. doi: 10.1111/j.1365-2362.2009.02252.x. Epub 2010 Jan 22.
This study was undertaken to analyse cases of microcytosis, and/or haemolytic anaemia where an unusual peak on HPLC or an abnormal electrophoretic mobility in isolation or along with common beta-globin gene defects was found, and to identify the molecular abnormality in them.
Investigations included a complete blood count, HPLC analysis, cellulose acetate electrophoresis (pH 8.9), heat stability test and DNA sequencing.
Five alpha chain variants were identified. This is the first report of Hb Jackson and Hb O Indonesia in the Indian population. The presence of Hb J Meerut along with Hb E and Hb J Paris I with heterozygous beta-thalassaemia are uncommon associations. Hb Sun Prairie would have remained undetected in the heterozygous state. The presence of a homozygous child in the family helped to identify this variant.
This study emphasizes the need to undertake systematic investigations while screening for the beta haemoglobinopathies to identify rare alpha chain variants in a population.
本研究旨在分析出现 HPLC 异常峰或电泳异常迁移率（孤立或与常见β珠蛋白基因缺陷同时出现）的小细胞低色素性贫血和/或溶血性贫血病例，并确定其分子异常。
研究内容包括全血细胞计数、HPLC 分析、醋酸纤维素电泳（pH8.9）、热稳定性试验和 DNA 测序。
共鉴定出 5 种α链变异体。这是印度人群中首次报道 Hb Jackson 和 Hb O Indonesia。Hb E 和 Hb J Paris I 与杂合β地中海贫血同时存在 Hb J Meerut 的情况较为少见。杂合状态下的 Hb Sun Prairie 可能会漏检。家系中存在纯合子患儿有助于鉴定该变异体。
本研究强调在筛查β珠蛋白血病时，需要系统地进行各项检查，以确定人群中罕见的α链变异体。
