Challenges in Interpreting Capillary Electrophoresis in the Co-existence of Non-deletional Alpha Thalassaemia with Increased Haemoglobin F
Keywords:
Molecular Genetics, Thalassaemia, Public HealthAbstract
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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