Scholars@Duke
Jennifer Ann Rothman

Jennifer Ann Rothman

Professor of Pediatrics
Pediatrics, Hematology-Oncology
jennifer.rothman@duke.edu
385 Hanes House, Box 102382, Durham, NC 27710

Selected Publications

What is in a name: defining pediatric refractory ITP.

Journal Article Blood Adv · October 8, 2024 There are no agreed upon terminology to define "refractory" pediatric immune thrombocytopenia (ITP). Guidelines are therefore limited to arbitrary and outdated definitions. The Pediatric ITP Consortium of North America held a meeting in 2023 to define this ... Full text Link to item Cite

Treatment of newly diagnosed severe aplastic anemia in children: Evidence-based recommendations.

Journal Article Pediatr Blood Cancer · August 2024 Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there are variations in management approach, including differences in treatment between adult and pediatric patients. Cer ... Full text Link to item Cite

Treatment of relapsed/refractory severe aplastic anemia in children: Evidence-based recommendations.

Journal Article Pediatr Blood Cancer · August 2024 Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there are variations in management approach, including differences in treatment between adult and pediatric patients. Cer ... Full text Link to item Cite

Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.

Journal Article MMWR Morb Mortal Wkly Rep · March 28, 2024 Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex health needs, reduced life expectancy, lifelong disabilities, and high cost of care. A cross-sectional analysis was conducted to calcula ... Full text Open Access Link to item Cite

Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.

Journal Article Lancet Haematol · March 2024 Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with ... Full text Link to item Cite

Case Report: Aplastic anemia related to a novel CTLA4 variant.

Journal Article Front Pediatr · 2024 A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections. Bone marro ... Full text Open Access Link to item Cite

ETIOLOGY

Chapter · January 1, 2024 Full text Cite

Other Microcytic Anemias

Chapter · January 1, 2024 Full text Cite

Preferences for potential benefits and risks for gene therapy in the treatment of sickle cell disease.

Journal Article Blood Adv · December 12, 2023 Objective of this study is to quantify benefit-risk tradeoffs pertaining to potential gene therapies among adults and parents/caregivers of children with sickle cell disease (SCD). A discrete-choice experiment survey was developed in which respondents sele ... Full text Link to item Cite

Sickle Cell Disease Births and Social Vulnerability (2016-2020): A Report from the Sickle Cell Data Collection Program

Conference Blood · November 2, 2023 IntroductionDespite national implementation of universal newborn screening for sickle cell disease (SCD) since 2006, data on the prevalence of SCD births in the United States are scarce. ... Full text Cite

Mitapivat Treatment Reduces Levels of Interference in Work/School Activity for Adult Patients with Pyruvate Kinase Deficiency

Conference Blood · November 2, 2023 Background: Pyruvate kinase (PK) deficiency is a rare hereditary disease resulting in chronic hemolytic anemia. It is associated with a range of acute and long-term complications and negatively impacts health-related qu ... Full text Cite

A randomized clinical trial of the efficacy and safety of rivipansel for sickle cell vaso-occlusive crisis.

Journal Article Blood · January 12, 2023 The efficacy and safety of rivipansel, a predominantly E-selectin antagonist, were studied in a phase 3, randomized, controlled trial for vaso-occlusive crisis (VOC) requiring hospitalization (RESET). A total of 345 subjects (204 adults and 141 children) w ... Full text Link to item Cite

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.

Journal Article N Engl J Med · April 14, 2022 BACKGROUND: Pyruvate kinase deficiency is a rare, hereditary, chronic condition that is associated with hemolytic anemia. In a phase 2 study, mitapivat, an oral, first-in-class activator of erythrocyte pyruvate kinase, increased the hemoglobin level in pat ... Full text Link to item Cite

Durability of Hemoglobin Response and Reduction in Transfusion Burden Is Maintained over Time in Patients with Pyruvate Kinase Deficiency Treated with Mitapivat in a Long-Term Extension Study

Conference Blood · November 5, 2021 AbstractBackground: Pyruvate kinase (PK) deficiency is a rare hereditary anemia caused by mutations in the PKLR gene encoding the red blood cell (RBC) PK enzyme (PKR). Defects in PKR lead to chronic hemolyti ... Full text Cite

Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.

Journal Article Am J Hematol · November 1, 2021 The North American Pediatric Aplastic Anemia Consortium (NAPAAC) is a group of pediatric hematologist-oncologists, hematopathologists, and bone marrow transplant physicians from 46 institutions in North America with interest and expertise in aplastic anemi ... Full text Link to item Cite

Pyruvate kinase deficiency in children.

Journal Article Pediatr Blood Cancer · September 2021 BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management. METHODS: An international, multicenter re ... Full text Link to item Cite

The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.

Journal Article Br J Haematol · March 2021 Diagnosis of pyruvate kinase deficiency (PKD), the most common cause of hereditary non-spherocytic haemolytic anaemia, remains challenging in routine practice and no biomarkers for clinical severity have been characterised. This prospective study enrolled ... Full text Link to item Cite

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Journal Article Blood Cells Mol Dis · March 2021 Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of ... Full text Link to item Cite

How I approach hereditary hemolytic anemia and splenectomy.

Journal Article Pediatr Blood Cancer · November 2020 Hereditary hemolytic anemias (HHA) are a heterogeneous group of anemias associated with decreased red cell survival. While there can be clinical benefit of splenectomy in many cases, splenectomy is not appropriate for all types of HHA. Additionally, there ... Full text Link to item Cite

LONG-TERM HEMATOLOGIC AND CLINICAL OUTCOMES OF SPLENECTOMY IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS AND SICKLE CELL DISEASE.

Journal Article Pediatric blood & cancer · August 2020 BackgroundTotal splenectomy (TS) and partial splenectomy (PS) are used for children with congenital hemolytic anemia (CHA), although the long-term outcomes of these procedures are poorly defined. This report describes long-term outcomes of childre ... Full text Cite

Computerized cognitive training in pediatric sickle cell disease: A randomized controlled pilot study.

Journal Article Clinical Practice in Pediatric Psychology · January 1, 2020 Objective: The current study assessed the feasibility of a computerized cognitive intervention, Cogmed, in a sample of youth with SCD (ages 8–16 years). If deemed feasible, the secondary aim of the study was to evaluate preliminary efficacy. Methods: Youth ... Full text Cite

A Retrospective Review of Hospital-Acquired Venous Thromboembolism at a Large Pediatric Tertiary Care Center

Conference Blood · November 13, 2019 Introduction:The incidence of venous thromboembolism (VTE) in hospitalized pediatric patients is increasing secondary to the growing medical complexity of pediatric patients and the increasing use of central venous ... Full text Cite

Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency

Conference Blood · November 13, 2019 Background: Pyruvate Kinase (PK) deficiency is caused by mutations in the PKLR gene leading to chronic hereditary non-spherocytic hemolytic anemia. Diagnostic evaluation can be challenging with falsely normal PK enzyme activity levels in chronicall ... Full text Cite

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Conference Blood · November 13, 2019 Background: Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia. The spectrum of disease in PKD is broad, ranging from an incidentally discovered mild anemia to a severe transfusion-depen ... Full text Cite

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Conference Blood · November 13, 2019 Introduction: Pyruvate kinase (PK) deficiency causes a defect in the glycolytic pathway, leading to a hereditary hemolytic anemia. Management is supportive and consists of splenectomy, transfusions, and chelation therapy. Full text Cite

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.

Journal Article Haematologica · October 2019 Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia for pediatric patient ... Full text Link to item Cite

The Spectrum of SPTA1-Associated Hereditary Spherocytosis

Journal Article Frontiers in Physiology · July 3, 2019 Full text Cite

Second-line treatments in children with immune thrombocytopenia: Effect on platelet count and patient-centered outcomes.

Journal Article Am J Hematol · July 2019 Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder with isolated thrombocytopenia and hemorrhagic risk. While many children with ITP can be safely observed, treatments are often needed for various reasons, including to decrease bleeding, or t ... Full text Link to item Cite

Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

Journal Article J Clin Invest · April 30, 2019 The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified ... Full text Link to item Cite

The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Conference Front Physiol · 2019 Hereditary spherocytosis (HS) is the most common red blood cell (RBC) membrane disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and α (SPTA1) or β-spec ... Full text Link to item Cite

Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis.

Journal Article Front Physiol · 2019 [This corrects the article DOI: 10.3389/fphys.2019.00815.]. ... Full text Link to item Cite

Health Related Quality of Life and Fatigue in Patients with Pyruvate Kinase Deficiency

Conference Blood · November 29, 2018 AbstractBackground: Pyruvate Kinase (PK) deficiency is the most common enzyme defect of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. Patients have a broad phenotypic spectrum, ... Full text Cite

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Journal Article Cold Spring Harb Mol Case Stud · October 2018 Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little i ... Full text Link to item Cite

Physician decision making in selection of second-line treatments in immune thrombocytopenia in children.

Journal Article Am J Hematol · July 2018 Immune thrombocytopenia (ITP) is an acquired autoimmune bleeding disorder which presents with isolated thrombocytopenia and risk of hemorrhage. While most children with ITP promptly recover with or without drug therapy, ITP is persistent or chronic in othe ... Full text Link to item Cite

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

Journal Article Blood · May 17, 2018 An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Medical hi ... Full text Link to item Cite

Bleeding and thrombotic complications of pediatric liver transplant.

Journal Article Pediatr Blood Cancer · May 2018 BACKGROUND: Pediatric patients undergoing liver transplant are at significant risk for bleeding and thrombotic complications due to the complex nature of rebalanced hemostasis in patients with liver disease. METHODS/OBJECTIVES: We reviewed records of 92 pe ... Full text Link to item Cite

[Formula: see text]Executive functioning and health-related quality of life in pediatric sickle cell disease.

Journal Article Child Neuropsychol · November 2017 Research consistently indicates that children with sickle cell disease (SCD) face multiple risk factors for neurocognitive impairment. Despite this, no empirical research to date has examined the impact of neurocognitive functioning on quality of life for ... Full text Link to item Cite

The clinical severity of hemoglobin S/Black (A γδβ)0 -thalassemia.

Journal Article Pediatr Blood Cancer · November 2017 Hemoglobin S/Black (A γδβ)0 -thalassemia is a rare sickle cell disease (SCD) variant. On the basis of limited descriptions in the literature, the disease is reported as a mild microcytic anemia with an uncomplicated course. We report the clinical and labor ... Full text Link to item Cite

Postoperative Venous Thromboembolism in Children Is Increased in Setting of Cancer or Infection

Conference Blood · December 2, 2016 AbstractBackground: Venous thromboembolism (VTE) is an uncommon but clinically significant postoperative complication in children. Incidence of VTE in pediatric patients ranges from 34-58 per 10,000 hospital ... Full text Cite

Variation in Serial TCD Velocity Measurements in the TCD with Transfusions Changing to Hydroxyurea (TWiTCH) Trial

Conference Blood · December 2, 2016 AbstractIntroduction: The multicenter phase 3 randomized clinical trial TCD With Transfusions Changing to Hydroxyurea (TWiTCH, NCT01425307) investigated whether hydroxyurea could ma ... Full text Cite

Clinical Characteristics and Quality of Life of Children with ITP Starting Second Line Treatments: Data from the ITP Consortium of North America ICON1 Study

Conference Blood · December 2, 2016 AbstractBackground: Children with ITP who are prescribedsecond line treatments vary in terms of their clinical phenotype, prior treatments, and health related quality of life (HRQoL). ... Full text Cite

Physician Factors Determining Treatment Decisions in Selecting Second Line Agents for Pediatric ITP

Conference Blood · December 2, 2016 AbstractBackground: Decision-making in selecting second-line therapies for pediatric patients with immune thrombocytopenia (ITP) has not been studied. Using data collected from physicians experienced in trea ... Full text Cite

Pharmacokinetics and bioequivalence of a liquid formulation of hydroxyurea in children with sickle cell anemia.

Journal Article J Clin Pharmacol · March 2016 Hydroxyurea (HU) is a crucial therapy for children with sickle cell anemia, but its off-label use is a barrier to widespread acceptance. We found HU exposure is not significantly altered by liquid vs capsule formulation, and weight-based dosing schemes pro ... Full text Link to item Cite

Trends in Sickle Cell Disease-related Priapism in U.S. Children's Hospitals.

Journal Article Urology · March 2016 OBJECTIVE: To define rates of priapism diagnosis and inpatient admission among males with sickle cell disease (SCD). PATIENTS AND METHODS: We retrospectively reviewed the Pediatric Health Information System database for males aged <21 years treated 2004-20 ... Full text Link to item Cite

Hydroxycarbamide versus chronic transfusion for maintenance of transcranial doppler flow velocities in children with sickle cell anaemia-TCD With Transfusions Changing to Hydroxyurea (TWiTCH): a multicentre, open-label, phase 3, non-inferiority trial.

Journal Article Lancet · February 13, 2016 BACKGROUND: For children with sickle cell anaemia and high transcranial doppler (TCD) flow velocities, regular blood transfusions can effectively prevent primary stroke, but must be continued indefinitely. The efficacy of hydroxycarbamide (hydroxyurea) in ... Full text Open Access Link to item Cite

Effects of hydroxyurea treatment for patients with hemoglobin SC disease.

Journal Article Am J Hematol · February 2016 Although hemoglobin SC (HbSC) disease is usually considered less severe than sickle cell anemia (SCA), which includes HbSS and HbS/β(0) -thalassemia genotypes, many patients with HbSC experience severe disease complications, including vaso-occlusive pain, ... Full text Link to item Cite

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia.

Journal Article J Pediatr Surg · January 2016 PURPOSE: The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD). METHODS: The Splenectomy in Congenital Hemolytic An ... Full text Link to item Cite

Organ iron accumulation in chronically transfused children with sickle cell anaemia: baseline results from the TWiTCH trial.

Journal Article Br J Haematol · January 2016 Transcranial Doppler (TCD) With Transfusions Changing to Hydroxyurea (TWiTCH) trial is a randomized, open-label comparison of hydroxycarbamide (also termed hydroxyurea) versus continued chronic transfusion therapy for primary stroke prevention in patients ... Full text Link to item Cite

Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry.

Journal Article Am J Hematol · March 2015 The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005 to 2013 at 16 sites i ... Full text Link to item Cite

Care of the oncology patient in the picu

Chapter · January 1, 2014 There are numerous malignant conditions that place the pediatric patient at great risk requiring the need of critical care services. Therefore, it is essential that the pediatric critical care provider possess a sound understanding of these conditions such ... Full text Cite

Timing of the Initiation of Hydroxyurea and Hematologic Outcomes in Patients with Sickle Cell Disease (SCD)

Conference Blood · November 16, 2012 AbstractAbstract 1004Hydroxyurea (HU) is approved for use in adults with Sickle Cell Disease (SCD) and increases the production of fetal hemoglobin (HbF). Increased HbF is as ... Full text Cite

Evaluation of partial and total splenectomy in children with sickle cell disease using an Internet-based registry.

Journal Article Pediatr Blood Cancer · July 15, 2012 BACKGROUND: Clinical outcomes of children with sickle cell disease (SCD) who undergo total or partial splenectomy (PS) are poorly defined. The purpose of this retrospective study was to initiate an Internet-based registry to facilitate analysis of clinical ... Full text Link to item Cite

Complications of implantable venous access devices in patients with sickle cell disease.

Journal Article Am J Hematol · February 2012 Implantable venous access devices (VADs) are used in sickle cell disease (SCD) for patients with poor venous access to facilitate chronic blood transfusions and manage acute complications. We attempted to define the frequency of bloodstream infections (BSI ... Full text Open Access Link to item Cite

Rapamycin does not control hemophagocytic lymphohistiocytosis in LCMV-infected perforin-deficient mice.

Journal Article Pediatr Blood Cancer · December 15, 2011 Hemophagocytic lymphohistiocytosis (HLH) is an immunodysregulatory disorder for which more effective treatments are needed. The macrolide rapamycin has immunosuppressive properties, making it an attractive candidate for controlling the aberrant T cell acti ... Full text Link to item Cite

Dasatinib Versus Imatinib In Patients with Newly Diagnosed Chronic Myeloid Leukemia In Chronic Phase (CML-CP) In the DASISION Trial: 18-Month Follow-up

Conference Blood · November 19, 2010 AbstractAbstract 206Background:Dasatinib is 325-fold more potent than imatinib in vitro against unmut ... Full text Cite

Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.

Journal Article Pediatr Blood Cancer · December 2009 Featured Publication X-linked lymphoproliferative disease (XLP) is an immunodeficiency caused by defects in the adaptor molecule SAP. The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinem ... Full text Link to item Cite

Sexual activity and functioning in female scleroderma patients

Journal Article Clinical and Experimental Rheumatology · November 9, 2009 Objective. Few studies exist on sexual activity and functioning in female patients with systemic sclerosis (SSc, scleroderma). We studied the patient-reported impact of SSc on sexual functioning among female patients. Methods. 101 SSc patients completed th ... Cite

Randomized placebo-controlled crossover trial of tadalafil in Raynaud's phenomenon secondary to systemic sclerosis.

Journal Article J Rheumatol · October 2009 Featured Publication OBJECTIVE: Raynaud's phenomenon (RP) is an important clinical feature of systemic sclerosis (SSc) for which consistently effective therapies are lacking. The study was designed to assess the safety, tolerability, and efficacy of tadalafil, a selective, lon ... Full text Link to item Cite

Sexual activity and functioning in female scleroderma patients.

Journal Article Clin Exp Rheumatol · 2009 Featured Publication OBJECTIVE: Few studies exist on sexual activity and functioning in female patients with systemic sclerosis (SSc, scleroderma). We studied the patient-reported impact of SSc on sexual functioning among female patients. METHODS: 101 SSc patients completed th ... Link to item Cite

Differential requirement for the SAP-Fyn interaction during NK T cell development and function.

Journal Article J Immunol · August 15, 2008 Featured Publication The adaptor molecule SAP (signaling lymphocytic activation molecule-associated protein) plays a critical role during NK T (NKT) cell development in humans and mice. In CD4(+) T cells, SAP interacts with the tyrosine kinase Fyn to deliver signals required f ... Full text Link to item Cite

Genetic testing and tumor surveillance for children with cancer predisposition syndromes.

Journal Article Curr Opin Pediatr · February 2008 Featured Publication PURPOSE OF REVIEW: Genetic testing for the presence of germline mutations in cancer-predisposing genes can identify individuals at increased cancer risk. For these individuals, the institution of cancer surveillance measures is recommended with the aim of ... Full text Link to item Cite

X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses.

Journal Article Immunol Res · 2008 Featured Publication A major focus of our research is to understand the molecular and cellular basis of X-linked lymphoproliferative disease (XLP), a rare and often fatal immunodeficiency caused by mutations in the SH2D1A gene, which encodes the adaptor molecule SAP. Recently, ... Full text Link to item Cite