In this episode of Heme Talks, we are joined by Dr. Sai Jambunathan as she shares her experiences with the diagnosis and management of a rare blood disorder known as AL amyloidosis. As a patient herself, listeners will gain insights into the complex initial workup and what the treatment journey is like for patients with this condition. Our patient advocate episodes highlight the importance of advocacy, community, and shared understanding between patients and their healthcare providers.

Key Takeaways:

1. AL amyloidosis can present without classic symptoms, making early recognition challenging. Dr. Jambunathan's initial symptoms — fatigue, shortness of breath, and night sweats — were subtle and initially attributed to other causes. Clinicians should maintain a broad index of suspicion, as timely diagnosis significantly impacts prognosis. 
2. Clear, compassionate communication from the care team makes a meaningful difference for patients and families. From explaining the diagnosis in accessible language to giving family members direct reassurance, Dr. Jambunathan's experience shows how much patients value providers who take the time to communicate honestly, patiently, and with empathy. 
3. Community, advocacy, and peer support are powerful tools for patients navigating a rare disease. Dr. Jambunathan found strength through patient support groups, faith communities, and caregivers — and channeled her experience into advocacy, helping pass an AL amyloidosis awareness month in New Jersey. Organizations like the Amyloidosis Research Consortium offer valuable resources for patients and families seeking connection and information. 

This podcast episode is supported by Alexion.

Join Dr. Maureen Achebe and Dr. Lauren Merz for an in‑depth exploration of the Absolute Neutrophil Counts (ANC) by Duffy Status project, a multicenter effort to define what “normal” ANC and white blood cell counts (WBC) look like in people with the erythrocyte Duffy null variant. Using data from 23 sites across the United States, the project established Duffy null-specific ANC and WBC reference intervals for both adults and children as well as highlighted how often healthy Duffy null individuals have ANC and WBC that fall below conventional laboratory cutoffs. 

The episode unpacks the key findings: in healthy adults with Duffy null status, the ANC reference interval has a lower limit of normal near 1,000/µL, substantially below many institutional “normal” thresholds and far below the traditional neutropenia threshold of 1,500/uL. Similar downward shifts are seen across pediatric age groups with lower limits of normal ranging from 500/uL to 900/uL depending on age category. The faculty discuss how, under current institutional ranges, a sizeable proportion of otherwise healthy Duffy null patients are labeled as neutropenic or leukopenic which often prompts unnecessary workups, referrals, and reduced access to clinical trials or certain medications.  

Drs. Merz and Achebe then turn to implementation. They outline how laboratories can develop, verify, and adopt Duffy null-specific reference intervals and practical ways to integrate this information into electronic medical records, decision-support tools, and clinical communication. They also highlight education strategies for clinicians, trainees, and patients to ensure that a low ANC in a Duffy‑null individual is interpreted appropriately and not reflexively pathologized. 

Listeners will come away with a clear understanding of new adult and pediatric Duffy null-specific ANC and WBC reference intervals as well as practical steps to implement this data into the healthcare system and clinical practice.

Learning Objectives: 

1. Describe how adult and pediatric Duffy null-specific ANC and WBC reference intervals were established and why traditional institutional ranges are inadequate for this population. 

2. Understand how to interpret ANC and WBC values in patients with the Duffy null phenotype using the new reference intervals.

3. Identify practical steps for health systems to adopt Duffy null‑specific reference intervals and effectively communicate these changes to colleagues, patients, and learners.

Clinical Pearls: 

1. In healthy adults with Duffy null status, the lower limit of normal ANC is 1,000/µL—meaning many healthy individuals are misclassified as neutropenic or abnormal by current standards.  

2. The lower limit of normal ANC for Duffy null children ranges from 500-900/uL with approximately a third of children with ANC <1500/uL.   

3. Implementation of Duffy null-specific infrastructure depends on coordinated efforts with a multidisciplinary team including transfusion medicine, clinical pathology, hematology, EMR IT, health equity specialists, medical educators, and patient advocates. 

Multiple myeloma care is evolving faster than ever, with new therapies, treatment strategies, and possibilities emerging at an unprecedented pace. In this episode, hematologist Dr. Devarakonda and Kathy Giusti, founder of the Multiple Myeloma Research Foundation, come together for a candid, practical conversation about what this rapid progress means for patients, caregivers, and providers.

They explore why where you’re treated matters, how timing, sequencing, and dosing decisions shape outcomes, and what it takes to be an informed patient in today’s complex care environment. Through real-world stories and clinical insight, the conversation highlights the importance of collaboration between community and academic care teams, the growing role of the patient voice in decision-making, and the need to balance cutting-edge treatment with quality of life.

Whether newly diagnosed or navigating later lines of therapy, this episode offers practical guidance for making confident, informed decisions in multiple myeloma care.

Key Takeaways

• Multiple myeloma is increasingly treatable, with patients living longer than ever. Advances in therapy are leading to remission for many patients and significantly improving survival outcomes.
• Where you’re treated—and your care team—matters more than ever. The most effective care is team-based, involving academic specialists, community oncologists, and the patient along with their  caregiver working together.
• Treatment decisions are more complex: timing, sequencing, and dosing all matter. With a growing number of options, patients and providers must navigate when and how to use therapies through ongoing, informed discussions.
• Being informed is essential to navigating care today. Patients have more access to information than ever before, and using that information effectively supports shared decision-making with their care team.

La atención del mieloma múltiple está evolucionando más rápido que nunca, con la aparición de nuevas terapias, estrategias de tratamiento y posibilidades a un ritmo sin precedentes. En este episodio, el hematólogo Dr. Devarakonda y Kathy Giusti, fundadora de la Multiple Myeloma Research Foundation (Fundación para la Investigación del Mieloma Múltiple), se reúnen en una conversación sincera y práctica sobre lo que este rápido avance significa para los pacientes, sus cuidadores y el personal de salud.

Ambos analizan por qué el lugar donde recibes el tratamiento es crucial, cómo las decisiones sobre el momento oportuno, la secuencia y las dosis de los medicamentos definen los resultados, y qué se necesita para ser un paciente informado en el complejo entorno de salud actual. A través de historias reales y una visión clínica, la conversación resalta la importancia de la colaboración entre los oncólogos locales y los centros médicos de alta complejidad, el rol cada vez mayor de la voz del paciente en la toma de decisiones, y la necesidad de equilibrar los tratamientos de vanguardia con la calidad de vida.

Ya sea que enfrentes un diagnóstico reciente o estés navegando por opciones para etapas más avanzadas de la enfermedad, este episodio ofrece una guía práctica para tomar decisiones seguras e informadas en la atención del mieloma múltiple.

Puntos clave

• El mieloma múltiple es cada vez más tratable y los pacientes viven más tiempo que nunca. Los avances terapéuticos están logrando la remisión en muchos pacientes y mejorando significativamente las tasas de supervivencia.
• El lugar donde te tratas —y tu equipo médico— importa más que nunca. La atención más eficaz es la que se realiza en equipo, donde colaboran los especialistas académicos, los oncólogos de la comunidad, y el paciente junto a su cuidador trabajando de manera conjunta.
• Las decisiones de tratamiento son más complejas: el momento, la secuencia y las dosis son factores clave. Con un número creciente de opciones, los pacientes y los médicos deben evaluar cuándo y cómo utilizar las terapias mediante un diálogo continuo e informado.
• Estar informado es esencial para gestionar tu atención hoy en día. Los pacientes tienen más acceso a la información que nunca; utilizarla de manera eficaz facilita la toma de decisiones compartidas con su equipo médico.

TTP is a hematologic emergency that demands immediate recognition and treatment to prevent fatal outcomes. In this HemeTalks episode, Dr. Yazan Abou-Ismail and Dr. Kolton Smith discuss the diagnostic hallmarks, therapeutic advances, and follow-up strategies for patients with TTP.

Through the lens of a clinical case, they explore the impact of caplacizumab, the importance of ADAMTS13 testing, and how to differentiate TTP from other TMAs. Tune in for practical insights that every hematologist and frontline provider should know.

Learning Objectives:

1. Recognize clinical and laboratory features indicative of TTP.
2. Understand the evolving treatment landscape, including the role of caplacizumab.
3. Apply principles for acute and chronic management of both congenital and acquired TTP.

Clinical Pearls:

1. Always consider iTTP diagnosis in any patient with findings of thrombotic microangiopathy, as early recognition is critical.
2. When iTTP is suspected, it is essential to start empiric therapy immediately—untreated disease carries a high mortality risk.
3. Monitor closely for disease exacerbation or relapse even after initial clinical response is achieved.

Join us for an insightful discussion on myelodysplastic neoplasms (or MDS) with Drs. DeZern and Mack as we review the current standards in diagnosis of MDS using cutting edge molecular techniques. This marrow failure syndrome requires thoughtful and accurate diagnosis to ensure appropriate risk assessment for clinical decision making. We will then review relevant therapeutic choices and how to monitor on and off therapy through the case of a 68 yo male with a 6-year history of disease. We will explore key diagnostic considerations, the distinct testing required for prognostication and the therapies available in lower and high-risk disease. This episode offers practical, evidence-based insights to enhance the recognition and management of MDS.

Learning Objectives:

1. Understand accurate diagnostic testing needed in MDS including core and aspirate, iron stain, IHC, and molecular diagnostics (MK and NGS)
2. Review limited therapeutic options currently available in MDS
3. Discuss management strategies at each stage of this disease from lower risk to higher risk with suitable monitoring plans

Clinical Pearls:

1. Comprehensive diagnosis and reassessment during disease course guide best practices for treatment
2. Treatment is warranted at phases of the disease with symptoms predominantly related to cytopenia

Join Professor Brea Lipe and Professor Sagar Lonial as they discuss the changing treatment landscape of smoldering multiple myeloma (SMM). With a recently approved treatment for high-risk SMM, knowing how to differentiate and manage SMM compared with monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) has never been more crucial. Professors Lipe and Lonial review the case of a 58-year-old man in good health with no anemia or other health concerns, whose annual checkup reveals an isolated finding of elevated total protein. As they follow this patient’s journey, they discuss best practice in diagnosis, risk stratification, and management of SMM. Finally, they consider the factors affecting decision-making in the context of data from early intervention trials that aimed to either delay progression to active MM or, potentially, to cure SMM. 

Learning Objectives:

• Explain the distinction between MGUS, SMM and MM 
• Describe the key tests required for a basic workup of a case of suspected clonal plasma cell disorder 
• Explain how patients with SMM may be risk-stratified 
• Evaluate the factors that influence the decision to treat or monitor a case of high-risk SMM 
• Discuss published clinical trial data on high-risk SMM management approaches 

Monoclonal gammopathy of undetermined significance (MGUS) is a common but often confusing finding on serum protein electrophoresis (SPEP) reports. In this HemeTalks episode, Drs. Rahma Warsame and Jason Chen discuss how to interpret abnormal SPEP results, evaluate patients with suspected MGUS, and differentiate between benign and concerning findings. Using real-world cases, they highlight key clinical decision points, follow-up strategies, and how to communicate results with patients effectively. Tune in for expert guidance on navigating this diagnostic gray zone in hematology.

Learning Objectives:  

1. Recognize the clinical significance of MGUS and how it is detected 
2. Understand how to interpret MGUS lab testing results in the context of monoclonal gammopathies 
3. Identify when to refer, monitor, or investigate further in patients with MGUS

Clinical Pearls:

1. MGUS is a premalignant condition that is a diagnosis of exclusion. It is defined by the presence of a serum monoclonal protein (M-protein) less than 3 g/dL, bone marrow plasma cellsl <10%, and no end organ damage (CRAB) 
2. MGUS can progress to multiple myeloma, AL amyloidosis, Waldenstrom’s macroglobulinemia 
3. Confirmatory tests for MGUS include: SPEP, FLC assay, and bone marrow (only if high risk features are present.

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: 

1. Describe at least two challenges individuals with aHUS and providers face in achieving accurate diagnosis and effective management. 
2. Identify one practical action patients or their support networks can take to advocate for better understanding, diagnosis, or management of aHUS. 
3. 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 

1. 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.
2. 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.