RESUMO
INTRODUCTION: Methemoglobin (MetHb) and sulfhemoglobin (SHb) measurements are useful in the evaluation of cyanosis. When one or both values are elevated, additional analysis is important to establish the etiology of the disorder. Methemoglobinemia occurs from acquired or hereditary causes with diverse treatment considerations, while true sulfhemoglobinemia is only acquired and treatment is restricted to toxin removal. Some toxic exposures can result in a dual increase in MetHb and SHb. Hereditary conditions, such as M-Hemoglobin variants (M-Hbs), can result in increased MetHb and/or SHb values but are clinically compensated and do not require treatment if they are cyanotic but otherwise clinically well. METHODS: Herein, we report 53 hemoglobin variant cases that have associated MetHb and SHb levels measured by an adapted Evelyn-Malloy laboratory assay method. RESULTS: Our data indicate M-Hbs cause variable patterns of MetHb and SHb elevation in a fairly reproducible pattern for the particular variant. In particular, α globin chain M-Hbs can mimic acquired sulfhemoglobinemia due to an isolated increased SHb value. CONCLUSION: If the patient appears clinically well other than cyanosis, M-Hbs should be considered early in the evaluation process to differentiate from acquired conditions to avoid unnecessary testing and treatment regimens and prompt genetic counseling.
Assuntos
Cianose/sangue , Metemoglobina/análise , Sulfa-Hemoglobina/análise , Adolescente , Adulto , Criança , Pré-Escolar , Cianose/genética , Feminino , Variação Genética , Hemoglobina M/análise , Hemoglobina M/genética , Humanos , Lactente , Masculino , Metemoglobinemia/sangue , Metemoglobinemia/genética , Sulfemoglobinemia/sangue , Sulfemoglobinemia/genética , Adulto JovemRESUMO
OBJECTIVES: In this report, we evaluated utility of the capillary electrophoresis (CE) migration position of the CAPILLARYS 2 CE instrument. METHODS: The precision of this x-axis number was determined on a selection of common hemoglobin (Hb) variants (Hb S, Hb C, Hb D-Punjab, Hb E, Hb Hope), and the reproducibility of this number was evaluated by comparing the results obtained by two large reference laboratories on 81 Hb variants. Additionally, the CE migration position is given for a total of 409 Hb variants. RESULTS: The x-axis migration position showed excellent intra- and interassay precision. Comparison of Hb variants seen by both laboratories showed that 83% had a difference in migration position of 1 unit or less. Only three rare Hb variants showed a difference of more than 2 units. CONCLUSION: In summary, the CE migration position is a reproducible value and can be used as an aid in the identification of Hb variants.
