Archives for Virtual Grand Rounds and Webinars on Thalassemia

Following are virtual grand rounds and webinars on a variety of topics that focus on a collection of inherited blood disorders called the thalassemias. These offerings have been developed through funding by the Centers for Disease Control and Prevention.

Dr. Alexis Thompson

Alexis A. Thompson, MD, MPH
Hematology Section Head
A. Watson and Sarah Armour Endowed Chair for Blood Diseases and Cancer

Ann & Robert H. Lurie Children’s Hospital of Chicago
Professor of Pediatrics, Northwestern University Feinberg School of Medicine

Associate Director for Equity and Minority Health
Robert H. Lurie Comprehensive Cancer Center and Northwestern University Feinberg School of Medicine

The thalassemia syndromes are a group of genetic blood disorders in which the production of one of the two different globin proteins (alpha or beta) that make up hemoglobin is reduced or absent. The result is anemia due to both ineffective erythropoiesis and chronic hemolysis, which typically begins in early childhood and lasts throughout life.

The clinical severity of thalassemia and interventions needed depend upon the globin chain affected and the type of genetic mutation. Persons with the most severe forms of thalassemia often require regular transfusions to treat the anemia and chelation therapy to prevent iron overload and associated sequelae. However, many patients with transfusion-dependent thalassemia (TDT) have struggled with adherence to the ongoing, intensive treatment regimen. Recent innovations, such as oral iron chelation agents, have helped improve adherence, and thus, prognoses (i.e., survival and quality of life in persons with TDT). Nonetheless, some patients and families are interested in definitive, potentially curative treatments.

In this webinar, Dr. Thompson describes considerations for stem cell transplantation, including patient characteristics, donor stem cell sources, and preparative regimens that impact clinical outcomes. She provides an overview of genomic therapies, such as gene addition and gene editing, and reviews the results of clinical studies on thalassemia.


Farzana Sayani

Farzana Sayani, MD, MSc
Assistant Professor of Medicine Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Director, Penn Comprehensive Adult Thalassemia Program

As thalassemia care is improving, more individuals with thalassemia are reaching adulthood with aspirations to start a family of their own. However, infertility is one of the major complications of iron overload in patients with thalassemia.

In this webinar, Dr. Sayani reviews the causes of infertility in individuals with thalassemia. She also discusses methods to preserve and evaluate fertility, management options for infertility, and other options available to start a family.


Mona Al Mukaddam, MD, MS

Mona Al Mukaddam, MD, MS
Director, Penn Bone Center
Assistant Professor of Clinical Medicine and Orthopaedic Surgery; Perelman School of Medicine
University of Pennsylvania

Rahul Agarwal, MD

Rahul Agarwal, MD
Assistant Professor of Medicine, Endocrinology, Diabetes & Bone Disease; Icahn School of Medicine, Mount Sinai Health

In these rounds, Mona Al Mukaddam, MD, MS, reviews the factors that contribute to bone disease in transfusion-dependent thalassemia. She also reviews the screening guidelines for low bone mass and discuss treatment options for osteoporosis in thalassemia. Rahul Agarwal, MD, presents a case study highlighting the effective management of osteoporosis in thalassemia.


Sujit Sheth, MD

Sujit Sheth, MD
Harold Weill Professor
Chief of Pediatric Hematology and Oncology
Vice Chair for Clinical Research, Department of Pediatrics, Weill Cornell Medicine
Director, New York Comprehensive Thalassemia Center, New York-Presbyterian Hospital/Weill Cornell Medical Center


Ashutosh Lal

Ashutosh Lal, MD
Professor of Pediatrics
UCSF School of Medicine
Director, Comprehensive Thalassemia Program
Co-Director, Bio-Iron Program
Hematology/Oncology
UCSF Benioff Children’s Hospital Oakland

Elliott Vichinsky

Elliott Vichinsky, MD
Professor of Pediatrics
UCSF School of Medicine
Director, Northern California Comprehensive Thalassemia Program
Medical Director, Hematology/Oncology
UCSF Benioff Children’s Hospital Oakland

The introduction of effective red blood cell (RBC) transfusions 50 years ago was a critical step in transforming thalassemia from a severe, fatal anemia into a chronic condition. In this webinar, Dr. Vichinsky and Dr. Lal review the range of complications associated with RBC transfusions in thalassemia. They also describe the guidelines for transfusion therapy in beta thalassemia major, the most common form of transfusion-dependent thalassemia. The webinar will also address transfusions in alpha thalassemia major, and recommendations for non-transfusion-dependent thalassemia.


Janet L. Kwiatkowski, MD, MSCE

Thalassemia Management: Balancing Blood and Ironexternal icon

Janet L. Kwiatkowski, MD, MSCE
Director, Thalassemia Center of Children’s Hospital of Philadelphia
Professor of Pediatrics, Perelman School of Medicine, University of Pennsylvania

In this webinar, Dr. Kwiatkowski provides an overview of current, recommended treatments for people with thalassemia, with an emphasis on transfusion-dependent thalassemia.  She discusses best practices in transfusion, as well as monitoring and treatment of iron overload.


Lauren Mednick MD, PhD

Behavioral Strategies for Parents of Children with Thalassemiaexternal icon

Lauren Mednick, PhD
Assistant Professor of Psychology
Harvard Medical School, Boston Massachusetts

In this webinar, Dr. Mednick shares strategies that parents can use to help children with thalassemia effectively cope with medical treatments and procedures that may be necessary to maintain their health. This webinar was developed in collaboration with the Cooley’s Anemia Foundationexternal icon.


Two-part series: Thalassemia: Newborn Screening in the United States

This two-part webinar series is designed for medical professionals who are or may be responsible for screening, diagnosing, and treating hemoglobinopathies. The series was developed with expert guidance from the Hemoglobinopathy Laboratory Workgroup at the Association of Public Health Laboratories (APHL).external icon

Part 1: Alpha Thalassemia: Clinical Aspectsexternal icon

Presenters: 

Grouped photo of Tim Davis, Maria del Pilar Aguinaga and M. A. Bender

Tim Davis, Chair, BS
APHL Hemoglobinopathy Laboratory Workgroup, Microbiologist 3
Washington State Department of Health

Maria del Pilar Aguinaga, PhD, DLM (ASCP),
Co-Director, Sickle Cell Center
Meharry Medical College

A. Bender, MD,
Attending Physician, Seattle Children’s Hospital
Director of Odessa Brown Comprehensive Sickle Cell Clinic

Grouped photo of Tim Davis, Joseph Ubaike, and Christine Dorley

Tim Davis, Chair, BS
APHL Hemoglobinopathy Laboratory Workgroup, Microbiologist 3,
Washington State Department of Health

Joseph Ubaike 
Supervising Microbiologist,
Newborn Screening Section, Connecticut Department of Health

Christine Dorley, MSP, MT (ASCP),
Newborn Screening  Division Manager,
Tennessee Department of Health Laboratory Services

The webinars provide information on the following:
  • The clinical aspects of alpha thalassemia and other types of thalassemia
  • The importance of newborn screening for thalassemia
  • Current technologies used for newborn screening for thalassemia
  • The current status of newborn screening for alpha thalassemia in the United States