Elevated HbF Labelled as LA1C/cHb1 on BioRad D10 HPLC: Missed Diagnosis of Homozygous Beta Thalassemia
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Accurate and timely diagnosis, genetic counselling and prenatal diagnosis form the basis of control of thalassemias . High performance liquid chromatography (HPLC) is a rapid, reproducible and accurate technique for the diagnosis of inherited hemoglobin disorders . The Bio-Rad D10 hemoglobin testing system is an automated cation exchange HPLC instrument for screening of inherited hemoglobin disorders. These are diagnosed by interpretation of the chromatograms for percentages and retention time . Erroneous interpretation of the peaks may lead to misdiagnosis with adverse clinical consequences. We present two patients in whom the diagnosis of β-thalassemia major was missed due to misinterpretation of HPLC chromatogram.
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Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. No patient/subject identifying information has been disclosed in the manuscript. No patient/subject intervention was done and the subjects were not exposed to any risks during the study.
Since the study involved a retrospective review of cases from routine testing offered by the laboratory, separate informed consent was not taken for the study. “For this type of study formal consent is not required”.
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