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Five α globin chain variants identified during screening for haemoglobinopathies
Author(s) -
Nair S.,
Nadkarni A.,
Warang P.,
Bhave A.,
Ghosh K.,
Colah R.
Publication year - 2010
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.2009.02252.x
Subject(s) - microcytosis , globin , population , biology , genetics , medicine , microbiology and biotechnology , gene , iron deficiency , anemia , environmental health
Eur J Clin Invest 2010; 40 (3): 226–232 Abstract Background 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 β‐globin gene defects was found, and to identify the molecular abnormality in them. Patients and methods Investigations included a complete blood count, HPLC analysis, cellulose acetate electrophoresis (pH 8.9), heat stability test and DNA sequencing. Results Five α 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 β‐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. Conclusions This study emphasizes the need to undertake systematic investigations while screening for the β haemoglobinopathies to identify rare α chain variants in a population.