Abstract
Alpha globin gene structural variants are caused mainly due to point mutations in the alpha globin gene. They are generally asymptomatic but in rare cases cause problems in association with other structural variants of thalassemia. We report here for the first time in Indian population a rare alpha globin gene structural variant named Hb Le Lamentin.
Highlights
Hemoglobinopathies are characterized by either reduced or absent synthesis of alpha or beta globin chains or by abnormal globin chain variant which may affect the function of the hemoglobin molecule [1]
These hemoglobin variants are identified based on their retention times (RT) on Ion-Exchange high-performance liquid chromatography (HPLC) with the help of hemoglobin variant library [2]
We report here a first case of Hb Le Lamentin an Indian patient
Summary
Hemoglobinopathies are characterized by either reduced or absent synthesis of alpha or beta globin chains (thalassemia) or by abnormal globin chain variant which may affect the function of the hemoglobin molecule [1]. Le Lamentin is one such alpha globin gene structural variant which does not cause any clinical problems or affect the hematological parameters in the patient. They are completely asymptomatic even when associated with a β-thalassemia trait [3] or in homozygous condition or as double heterozygous with another alpha chain variant [4]. There have been reports showing that the presence of this variant interferes with the elution time of HbA1c resulting in reduced and erroneous levels. The main aim of reporting this case is to create awareness that this variant may be commonly present in the Indian population too
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