Health Science Monitor

Background The Philadelphia (Ph) chromosome, characterized by the translocation t(9;22)(q34;q11), is found in 90–95% of individuals diagnosed with Chronic Myeloid Leukemia (CML) and in 0.1 - 3% of those with Acute Myeloid Leukemia (AML). The detection of chromosomal abnormalities plays a crucial role in the diagnosis and management of hematological disorders. The present study aimed to perform molecular genetic characterization of Ph in patients with CML in the north-west of Iran.
Methods A total of 45 new cases of adult patients with CML were studied at the Department of Internal Medicine, Imam Khomeini Hospital. The Ph chromosome was detected using simple multiplex RT-PCR methods.
Results We studied 45 patients with a mean age of 55.03 ± 21.56, including 23 (51.1%) males and 22 (48.9%) females. The frequencies of b2a2, b3a3, b3a3/b3a2, b3a2, and e1a2 transcripts were 46.71%, 24.4%, 6.67%, 2.22%, 2.22%, respectively. BCR–ABL typical transcripts were not found in the rest of our patients.
Conclusion Our findings revealed that the b2a2 transcript was the most common among CML patients, while patients carrying the b3a2 transcript demonstrated better molecular responses to standard-dose imatinib. The identification of transcript types not only supports diagnosis but also guides targeted therapy and long-term monitoring. Furthermore, emerging strategies combining TKIs with novel therapeutic agents may offer promising alternatives for resistant CML cases.