Leukemia is a type of cancer that affects the blood and bone marrow. It causes an abnormal increase of white blood cells called leukocytes, which can crowd out normal blood cells. This interrupts the bone marrow's normal production of blood cells. As a result, the immune system weakens and anemia or bleeding problems may occur. Leukemia is broadly categorized into two main types - acute and chronic leukemia - based on how quickly the disease progresses.

Signs and Symptoms of Leukemia
Some common signs and symptoms of leukemia include fatigue, frequent or severe infections, easy bleeding or bruising, bone or joint pain, fever and chills, swollen lymph nodes, weight loss and night sweats. However, these can also be symptoms of other health conditions. That's why it's important to see a doctor if any persist for more than a few weeks.

Blood Tests for Screening
A complete blood count (CBC) is often the first test used to screen for leukemia. A CBC measures the number and quality of white blood cells, red blood cells and platelets in the blood. Abnormal levels can indicate leukemia. A CBC alone cannot confirm a diagnosis of leukemia, but it helps identify those who may need further testing.

Bone Marrow Aspiration and Biopsy
If initial blood tests show irregularities, a bone marrow aspiration and biopsy will likely be performed. During these procedures, a sample of bone marrow fluid and/or solid material is removed from the hip bone or breastbone. This is examined under a microscope by a pathologist. Around 97% of leukemias are detected through bone marrow testing. The procedure helps determine if abnormal cells are present in the marrow and whether it is acute or chronic leukemia.

Molecular Genetic Testing
Using genomic analysis, molecular genetic testing can further characterize leukemia cells at the DNA level. It helps identify specific genetic mutations and chromosome changes associated with different types and subtypes of leukemia. This informs prognosis and directs tailored treatment approaches. Some common genetic tests for leukemia screening include fluorescence in situ hybridization (FISH) analysis and polymerase chain reaction (PCR).

Monitoring Remission and Relapse
Even after successful treatment and achieving remission, leukemia patients remain at high risk of relapse. Their blood counts are therefore routinely monitored through repeat CBC tests and occasional bone marrow biopsies. These screening methods are important to detect possible recurrence of the disease at an early stage when it may still be possible to intervene with additional therapies to prevent or slow progression. Regular follow-up screening continues for several years after remission.

Screening Newborns for SCID
Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder where the immune system fails to develop properly. These newborn babies are highly vulnerable to infections. Around 10-15% of SCID cases eventually evolve into aggressive leukemia if untreated. To prevent this, many states in the US screen all newborns for SCID through a simple blood test called T-cell receptor excision circles (TREC) assay. Detected early through routine screening, SCID can be managed effectively through hematopoietic stem cell transplantation.

Benefits and Limitations of Leukemia Screening
While screening helps detect leukemia at an earlier stage in some cases, it also has limitations. As not all early signs are specific to leukemia alone, testing people without symptoms could potentially lead to overtreatment. Furthermore, current screening methods may fail to pick up less common subtypes that lack typical clinical or laboratory features. However, when used prudently in high-risk groups, regular screening offers benefits like enabling prompt treatment initiation and possibly improving long-term outcomes. With ongoing research, screening strategies continue evolving to better target at-risk populations.

 

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