Unexpected HbA results in the presence of three rare hemoglobin variants.

Hemoglobin (Hb) variants, characterized by structural abnormalities in the globin chains, are among the most common inherited disorders. It has been shown that Hb variant remains an important cause of erroneous HbA results. Thus, it is important to be aware of the extent of the interference of each Hb variant encountered to avoid reporting unreliable results.

[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].

Objective: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.

Methods: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.

Results: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.