Final answer:
CML's etiology is connected to the Philadelphia chromosome, which causes malfunction in genes leading to excessive leukocyte production. The genetic defect specifically involves a translocation between chromosomes 9 and 22, producing the BCR-ABL gene that results in the disease.
Step-by-step explanation:
The etiology of Chronic Myelogenous Leukemia (CML) is primarily linked to a genetic abnormality known as the Philadelphia chromosome. This is a case where genes on a defective chromosome malfunction and code for extreme leukocytosis, which means there is an excessive production of white blood cells.
In CML, there is a specific genetic translocation between chromosomes 9 and 22, which results in the formation of a new, abnormal, gene called BCR-ABL. This gene codes for a protein with tyrosine kinase activity, which leads to uncontrolled growth of leukocytes. These excessive and dysfunctional leukocytes crowd out normal blood cells, causing symptoms such as fatigue, infection susceptibility, and abnormal bleeding.
Understanding the connection between the Philadelphia chromosome and CML has led to the development of targeted therapies, like tyrosine kinase inhibitors, which significantly improve the prognosis for those affected by this type of leukemia.