In this episode, Drs. Ronak Mistry and Jori May discuss the challenging decision of when to test for inherited thrombophilias and how results inform anticoagulation management. The use of thrombophilia testing has long been debated in the hematology community, due in large part to limited data and the complexity of estimating recurrent thrombotic risk. Through the case of a 36-year-old woman with a proximal deep vein thrombosis 4 weeks after an uncomplicated vaginal delivery, we explore the importance of defining provoking factors, evaluating bleeding risk, exploring previous thrombotic challenges and family history, and ultimately whether thrombophilia testing may be helpful to determine the need for long term anticoagulation.

Learning Objectives:

1. Accurately interpret the results of laboratory tests for inherited hypercoagulable disorders.
2. Identify appropriate clinical situations where testing for inherited hypercoagulable disorders can be considered.
3. Discuss how inherited thrombophilias influence decisions on the duration of anticoagulation in VTE without major transient risk factors.

Clinical Pearls:

1. Assay selection, appropriate timing of testing, and accurate interpretation of results are foundational to the use of thrombophilia testing in the care of patients with VTE.
2. The use of thrombophilia testing to guide the duration of anticoagulation in patients with VTE without major transient risk factors is debated and therefore must be individualized to every patient.

In this episode of HemeTalks, Alyssa Deffenbaugh and Dr. Toyosi Onwuemene explore the challenges of diagnosing, managing, and living with atypical hemolytic uremic syndrome (aHUS). Listeners will gain insight from a patient advocate and individual living with aHUS, as well as a physician who supports patients through diagnosis and ongoing management. Together, they highlight the importance of advocacy, community, and building a shared understanding between patients and providers.

Learning Objectives:

By the end of this episode, listeners will be able to:

• Describe at least two challenges individuals with aHUS and providers face in achieving accurate diagnosis and effective management.
• Identify one practical action patients or their support networks can take to advocate for better understanding, diagnosis, or management of aHUS.
• Describe at least one way community support helps patients, and one way it helps providers navigate aHUS more effectively through shared knowledge or encouragement.

Clinical Pearls

• The aHUS Foundation offers essential patient-support resources for individuals living with aHUS, including active Facebook communities and annual conferences that help patients and families stay informed and connected. The American Society of Hematology website also provides valuable educational resources for clinicians seeking information related to rare conditions such as aHUS.
• The annual conferences hosted by the aHUS Foundation create valuable opportunities for patients and caregivers to meet others navigating aHUS, share experiences, and build a shared understanding of life with the condition.

The aHUS Alliance Action website provides globally sourced educational materials, patient stories, and practical tools that support understanding of aHUS.

This podcast is part of the Rare Diseases Educational Series, developed by the American Society of Hematology and supported by Alexion.

Join us for an important conversation with Dr. Andrew Hintel and Dr. Lauren Merz as we explore how the Duffy null phenotype shapes absolute neutrophil count (ANC) and what this means for clinical care and trial design. Although common among individuals of African, Middle Eastern, and North African ancestry, the Duffy null phenotype is often misunderstood, leading to unnecessary procedures, inappropriate dose modifications, and exclusion from potentially life-saving therapies.

Through real-world examples, we discuss how standard ANC cutoffs can disadvantage Duffy null patients, the implications for chemotherapy, immunosuppressive drugs, and clozapine, and how recent updates to Common Terminology Criteria for Adverse Events grading criteria intersect with this biology. The episode also highlights ongoing efforts, supported by ASH and the Doris Duke Foundation, to establish adult and pediatric reference intervals and promote more inclusive clinical trial practices.

This discussion will equip hematologists and oncologists with practical insights to better interpret neutrophil counts, advocate for equitable trial access, and optimize treatment decisions for patients with the Duffy null phenotype.

Learning Objectives:

1. Understand the ANC by Duffy Status Project: Describe the rationale behind reconsidering absolute neutrophil count (ANC) reference ranges based on Duffy status and its implications for patient care.

2. Apply Clinical Trial Recommendations: Identify key recommendations for including patients with Duffy-null associated neutrophil counts in clinical trials and explain why these changes are important for equitable trial design.

3. Utilize Educational Resources: Recognize the educational tools and resources available to support clinicians, researchers, and institutions in adopting updated ANC reference ranges and practices.

Clinical Pearls:

1. The Duffy null phenotype is found in 10% of people United States and results in an absolute neutrophil count lower limit of normal of ~1200/uL.

2. Clinical trials do not account for this variation which results in disparities in eligibility, systemic anticancer therapy administration, and adverse event reporting.

3. The American Society of Hematology strongly recommends obtaining Duffy status in all clinical trials