Thalassemia Hub

Thalassemia Hub

Equity in Diagnostic Testing Overview

Diagnostic testing is at the core of detecting thalassemia as it relies on early molecular genetic testing to check if it’s passed to offspring which can have adverse effects*. It is critical that tests are performed timely and accurately for best health outcomes for BIPOC.

Key tests for thalassemia are:

  • General Details of Reticulocyte Count

    Reticulocytes are fairly immature red blood cells that have been newly produced. A reticulocyte count is used to analyze the amount or percentage of reticulocytes in the blood. The test is commonly used to help determine the cause of unusual blood test results, in diagnosis and monitoring of medical conditions like anemia, and to check the bone marrow after bone marrow transplants or chemotherapy. Reticulocyte counts are commonly performed with a complete blood count (CBC), and the test is usually carried out by using an automated instrument called a hematology analyzer. Since reticulocytes still retain some small amounts of RNA, measuring the amount of reticulocytes provide a strong indication of your bone marrow’s capability to generate red blood cells. The process for a reticulocyte count test usually involves drawing a vial of blood from a vein in the patient’s arm, which typically takes a few minutes.

    Disparities of Reticulocyte Count

    Many medical conditions fall at both higher and lower ends of reticulocyte counts that are out of normal range. A study of newborn patients in the Cooperative Study of Sickle Cell Disease (CSSCD) with high reticulocyte counts and anemia showed a link to severe disease and higher rates of hospitalization and frequency of hospitalization due to acute chest syndrome, pain crisis, and spleen sequestration from infancy through the age of 3 years. The CSSCD study also showed an increased risk of death or stroke during childhood. In addition, a study that looked at hemodialysis patients over a period of more than three years showed that higher reticulocyte counts were linked to higher mortality rates. Pregnant women, newborns, and people who reside at higher altitude levels may have higher than normal reticulocyte counts. This phenomenon of higher reticulocytes is due to the adjustments the body makes in these situations. Lower oxygen levels require the body to adjust, thus smokers may also show higher levels of reticulocytes and red blood cells. Reticulocyte counts may also be higher than normal in those taking supplements for megaloblastic (vitamin B12) anemia or iron deficiency anemia. At the other end of the spectrum, lower than normal counts are often seen in those with untreated megaloblastic anemia, iron deficiency anemia, or folate deficiency; chronic kidney disease; low erythropoietin hormone levels; or those undergoing chemotherapy or radiation treatments.

    Why This Matters

    If higher reticulocyte counts are linked to higher rates of hospitalization, frequency of hospitalization, and higher rates of stroke and death; medical research must do more to help patients of all ages who are impacted. Increased frequency of reticulocyte count testing and increased research to create more treatments and refined treatments for patients who need treatment are vital to help patients.

    Call to Action

    Reticulocyte count testing is an important part of monitoring a wide range of patients and medical conditions, including those with sickle cell trait, sickle cell disease, pregnant women, newborns, iron anemia, megaloblastic anemia, chronic kidney disease, folate deficiency, chemotherapy patients, radiation patients, and others. Make sure to ask your healthcare provider about reticulocyte testing if you or your loved one has any of these conditions or falls under one of the patient categories.

    Brooke Whitaker, DCLS, MLS(ASCP)cm is a doctor of clinical laboratory science. You can find her on Twitter: https://twitter.com/BrookeW74021416@BrookeW74021416

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Sources

*Thalassemias.Cleveland Clinic website. Accessed March 16, 2023. https://my.clevelandclinic.org/health/diseases/14508-thalassemias#diagnosis-and-tests

Reticulocyte Count Test. Testing.com website. Accessed October 27, 2023. https://www.testing.com/tests/reticulocytes/

Emily Riehm Meier, MD; Elizabeth C. Wright, PhD; Jeffery L. Miller, MD. Reticulocytosis and anemia are associated with an increased risk of death and stroke in the newborn cohort of the Cooperative Study of Sickle Cell Disease. PubMed Central website. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134755/

Chieko Takagi, Kumeo Ono, Hidenori Matsuo, Nobuo Nagano, Yoshihisa Nojima. Higher reticulocyte counts are associated with higher mortality rates in hemodialysis patients: a retrospective single-center cohort study. Renal Replacement Therapy. Accessed October 27, 2023.https://rrtjournal.biomedcentral.com/articles/10.1186/s41100-016-0084-5


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