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.

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

Join us for a vital conversation on thalassemia in pediatric hematology with Drs. Sujit Sheth and Ashutosh Lal. Thalassemia is one of the most common inherited blood disorders in children globally, especially in populations from the Mediterranean, Middle East, South Asia, and Africa. This episode explores the different types of thalassemia, strategies for early diagnosis, the importance of transfusion and chelation therapies, and evolving curative options like stem cell transplantation and gene therapy. Using the case of a young child with beta-thalassemia major, we’ll examine both challenges and new hope on the horizon for long-term disease management.

Learning Objectives:

1. Understand the types and diagnostic approach to thalassemia in pediatric patients
2. Review current standards of care including transfusions and chelation therapy
3. Explore curative treatment options, including stem cell transplant and gene therapy

Clinical Pearls:

1. The thalassemias are a group of disorders of ineffective erythropoiesis, with a wide spectrum of clinical presentations, ranging from a mild anemia to transfusion dependence.
2. The diagnosis is based on the clinical presentation, routine hematologic testing and for a more complete picture and some prognostic relevance, genetic testing of the alpha and beta globin genes.
3. Management includes close monitoring for all patients, episodic or regular transfusions, iron chelation therapy as indicated, and assessment for stem cell transplant or gene therapy in specific cases.