Challenges in Interpreting Capillary Electrophoresis in the Co-existence of Non-deletional Alpha Thalassaemia with Increased Haemoglobin F

Authors

  • Munawaroh Fitriah Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia Author
  • Betty Agustina Tambunan Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia Author
  • Yulia Nadar Indrasari Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia Author
  • Narazah Mohd Yusoff Genetics Unit, Clinical Diagnostic Lab, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Penang, Malaysia Author
  • Rosline Hassan Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia Author
  • Wardah Yusof Department of Medical microbiology & Parasitology, School of Medical sciences, Universiti Sains Malaysia, Kelantan, Malaysia Author
  • Yetti Hernaningsih Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia Author

Keywords:

Molecular Genetics, Thalassaemia, Public Health

Abstract

Haemoglobin (Hb) analysis by Capillary electrophoresis (CE) able to diagnose most cases of beta thalassaemia. However, for alpha thalassaemia, only limited cases could be diagnosed by CE, such as HbH, Hb Barts and haemoglobinopathy (i.e. Hb Constant Spring). All alpha thalassaemia traits will be missed by Hb analysis. Here we report a case of non-deletional alpha with raised Hb F. A 10-year-old, Indonesian boy presented with moderate anaemia, and a complete blood count showed Hb of 7.84 g/dL; MCV 83 fL; MCH 24.8 pg; MCHC 29.9 g/dL; Hct 26.2% and an increase in ferritin level of 1,548.88 ng/mL. The result of CE showed decreased percentage of Hb A (92.9%), HbA2 (2.1%), the presence of abnormal Hb variant eluted at zone 12 (0,4%), and zone 2 (0.8%) and raised in HbF (3.8%) level led to a presumptive of Hb H disease. Molecular analysis confirmed the diagnosis of a compound heterozygous of non-deletional alpha thalassaemia (Hb Adana and Constant Spring). Beta thalassaemia mutations analysis for common beta gene mutations by Multiplex Amplification Refractory System (MARMRS) PCR were normal. Increased HbF in this case is not inherited from both parents as confirmed by family study and this might be due to marrow response to the anaemic state or the possibility of concomitant presence of delta beta thalassaemia abnormalities.

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Published

2024-03-20

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Case Report

How to Cite

Challenges in Interpreting Capillary Electrophoresis in the Co-existence of Non-deletional Alpha Thalassaemia with Increased Haemoglobin F . (2024). Malaysian Journal of Human Genetics, 4(1), 11-15. https://mjhg.kk.usm.my/index.php/journal/article/view/41

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