Advertisement

Elevated HbF Labelled as LA1C/cHb1 on BioRad D10 HPLC: Missed Diagnosis of Homozygous Beta Thalassemia

  • Shruti Vaswani
  • Ranjeet Singh Mashon
  • Naveen KakkarEmail author
Correspondence
  • 12 Downloads

Accurate and timely diagnosis, genetic counselling and prenatal diagnosis form the basis of control of thalassemias [1]. High performance liquid chromatography (HPLC) is a rapid, reproducible and accurate technique for the diagnosis of inherited hemoglobin disorders [2]. 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 [3]. 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.

Case 1: An 8 months old male child was referred with severe transfusion dependent anemia. Complete blood count (CBC) showed microcytic hypochromic anemia (Table  1). HPLC done outside showed the child to be normal, mother as β thalassemia trait (HbA2-5.7%), while...

Notes

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

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.

Informed Consent

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”.

References

  1. 1.
    Verma IC, Saxena R, Kohli S (2011) Past, present & future scenario of thalassaemic care & control in India. Indian J Med Res 134:507–521Google Scholar
  2. 2.
    Clarke GM, Higgins TN (2000) Laboratory investigations of hemoglobinopathies and thalassemias: review and update. Clin Chem 46:1284–1290Google Scholar
  3. 3.
    Joutovsky A, Hadzi-Nesic J, Nardi MA (2004) HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. Clin Chem 50:1736–1747CrossRefGoogle Scholar
  4. 4.
    Hemoglobin A1c/A2/F. Bio-Rad D10 dual program. UCSF Clin Labs Chemistry. [Internet] www.labmed.ucsf.edu/proc-hgba1c_a2_f_d10. Cited 6 Apr 2018

Copyright information

© Indian Society of Hematology and Blood Transfusion 2018

Authors and Affiliations

  • Shruti Vaswani
    • 1
  • Ranjeet Singh Mashon
    • 1
  • Naveen Kakkar
    • 1
    Email author
  1. 1.Department of PathologyChristian Medical College and HospitalLudhianaIndia

Personalised recommendations