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ABSTRACT
Background
Chronic myeloid leukaemia (CML) is a malignancy characterized by the Philadelphia chromosome, which harbours the BCR-ABL1 fusion oncogene. This leads to increased tyrosine kinase activity, promoting DNA damage and genetic instability. The diagnosis and management of CML involve a combination of tests, including full blood count (FBC), bone marrow aspirate, cytogenetic analysis, and molecular testing for BCR-ABL1. This study aims to assess haematological, bone marrow, cytogenetic, molecular, and biochemical features in patients diagnosed with CML.
Method
A cross-sectional descriptive study design was employed, including 47 patients with confirmed CML (mean age 38.87 ± 17.37 years). All participants underwent FBC, bone marrow aspiration and trephine biopsy, cytogenetic analysis for the Philadelphia chromosome, and molecular testing for BCR-ABL1 fusion. Uric acid and lactate dehydrogenase (LDH) levels were also analyzed.
Result
The study findings aligned with established literature. Most patients exhibited leucocytosis with a bimodal peak in neutrophils and myelocytes, anaemia, thrombocytosis, and presence of the Philadelphia chromosome (t(9;22)). Biochemical results showed elevated uric acid (mean 2.65 mmol/L) and LDH (mean 423.81 U/L) levels. The study's demographics showed that most patients were adult males.
Conclusion
The presence of granulocytic hyperplasia in bone marrow and elevated WBC, platelet count, and biochemical tests are consistent with typical CML presentation. The study highlights the importance of cytogenetic and molecular studies in confirming CML diagnosis. For patients suspected of CML, cytogenetic and molecular studies should be done to confirm the diagnosis. If these studies are negative, other traditional investigations should be conducted to explore other causes of high white cell count, potentially saving costs. This study's findings may aid in laboratory investigation and diagnosis of CML in the future.