Diagnosis of Chronic Myeloid Leukaemia
Diagnosis of chronic myeloid leukaemia begins with a thorough examination of blood and bone marrow samples. Since chronic myeloid leukaemia often progresses slowly and may not initially cause symptoms, it is frequently detected through routine blood tests revealing elevated white blood cell counts.
1. Complete Blood Count (CBC)
The first indication of CML is usually a high white blood cell count. The CBC may also reveal anaemia (low red blood cells) and abnormal platelet counts. Immature white cells, such as myelocytes and promyelocytes, are often present in the blood.
2. Peripheral Blood Smear | Diagnosis of Chronic Myeloid Leukaemia
A microscope is used to examine the shape and maturity of cells in the blood. A smear showing excessive immature granulocytes is typical of CML.
3. Bone Marrow Aspiration and Biopsy
A bone marrow test confirms the diagnosis and provides insight into how far the disease has progressed. It assesses the percentage of immature white cells and the cellularity of the marrow.
4. Cytogenetic Analysis
Testing for the Philadelphia chromosome is central to diagnosing CML. Conventional karyotyping or more sensitive techniques such as fluorescence in situ hybridisation (FISH) are used to identify the translocation between chromosomes 9 and 22.
5. PCR Testing | Diagnosis of Chronic Myeloid Leukaemia
Polymerase chain reaction (PCR) detects and quantifies the BCR-ABL1 fusion gene. It is highly sensitive and used for ongoing monitoring of treatment response. A falling BCR-ABL1 level indicates successful treatment.
6. Additional Blood Tests
Other tests may include serum lactate dehydrogenase (LDH), uric acid levels, and liver function tests. These help evaluate disease burden and manage side effects of treatment.
Diagnosis also involves classifying the disease stage:
- Chronic phase: Most manageable and stable
- Accelerated phase: Signs of increasing disease activity
- Blast crisis: Similar to acute leukaemia; very aggressive
A confirmed diagnosis of chronic myeloid leukaemia allows physicians to begin targeted treatment quickly. Because CML has such a strong molecular marker, diagnosis is highly specific and helps inform both prognosis and therapeutic strategy.
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