# What is the Philadelphia chromosome in the context of Chronic Myeloid Leukemia (CML)?

Canonical page: https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml
Language: en
Category: oncology
Publisher: ClinicsJo
Published: 2026-09-13T08:09:51.199Z
Content updated: 2026-09-13T08:09:51.199Z
Translation (ar): https://clinicsjo.com/ar/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml

The Philadelphia chromosome is a specific genetic change found in the majority of individuals with Chronic Myeloid Leukemia (CML) [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). It is not hereditary; rather, it occurs during an individual's lifetime [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). To understand this chromosome, it is first necessary to know that every cell in the body contains DNA located within chromosomes, which determine how a cell functions and its appearance [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>).

In the case of Chronic Myeloid Leukemia, an exchange of DNA segments occurs between two different chromosomes: a piece of DNA from chromosome 9 moves to chromosome 22 [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). This exchange creates a new gene known as BCR-ABL [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). The altered chromosome 22, which carries this fusion gene, is what is called the Philadelphia chromosome [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>).

## How does the Philadelphia chromosome affect the body?

The BCR-ABL gene produces an abnormal protein called tyrosine kinase [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>). This protein stimulates the bone marrow to produce very large numbers of immature white blood cells, known as blast cells [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). These abnormal cells accumulate in the bone marrow and blood, crowding out healthy blood cells and hindering their normal functions [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). This can lead to symptoms such as severe fatigue, unexplained weight loss, fever, and drenching night sweats [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>).

## The importance of the Philadelphia chromosome in diagnosis

The detection of the Philadelphia chromosome is crucial in the diagnosis of Chronic Myeloid Leukemia [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). This genetic change is identified through special genetic tests performed on blood or bone marrow samples [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). These tests include cytogenetic analysis, which examines chromosomes for changes; fluorescence in situ hybridization (FISH); and reverse transcription-polymerase chain reaction (RT-PCR), which measures the amount of genetic material produced by the BCR-ABL gene [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>).

## Targeted therapies for CML and the role of the Philadelphia chromosome

Because of the pivotal role of the abnormal tyrosine kinase protein produced by the BCR-ABL gene, targeted therapies for CML focus on inhibiting this enzyme [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). These medications are known as tyrosine kinase inhibitors (TKIs), and they work by blocking the enzyme that causes the bone marrow to produce an excessive number of blast cells [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). These inhibitors include drugs such as Imatinib, Dasatinib, and Nilotinib [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>). These treatments specifically target cancer cells, thereby reducing damage to healthy cells [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>).

## Treatment monitoring and next steps

After starting treatment, periodic monitoring is essential to evaluate the effectiveness of the therapy and track BCR-ABL gene levels. If you are experiencing symptoms such as persistent severe fatigue, unexplained weight loss, fever, drenching night sweats, or pain or a feeling of fullness under the ribs on the left side, it is important to consult your doctor [\[1\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S1>). These symptoms may be caused by Chronic Myeloid Leukemia or other conditions, and it is important to have them evaluated immediately [\[2\]](<https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#source-S2>). For more information about this disease, you can visit [Chronic Myeloid Leukemia: Understanding the Disease and Modern Treatments (Arabic)](<https://clinicsjo.com/ar/articles/chronic-myeloid-leukemia-understanding-modern-treatments>).

## Medical references

- [Chronic Myeloid Leukemia](<https://medlineplus.gov/chronicmyeloidleukemia.html>)

- [Chronic Myeloid Leukemia Treatment (PDQ®)–Patient Version](<https://www.cancer.gov/types/leukemia/patient/cml-treatment-pdq>)

General health education; not a substitute for individualized clinical assessment.

Citation URL: https://clinicsjo.com/en/faq/ma-howa-kromosom-filadelfia-fi-syaq-abyidad-dam-naqwi-muzmin-cml#answer
