Multicenter comparative study of polysomnography outcomes in children with the monogenic disorder sickle cell disease.

Study Objectives: Sleep-disordered breathing (SDB) is prevalent in children with sickle cell disease (SCD) and is associated with worse outcomes. This study aims to compare the outcomes of polysomnography (PSG) performed for pediatric patients with SCD at three United States centers.

Methods: We included children with SCD aged 0-21 who underwent PSG at three American Academy of Sleep Medicine accredited centers: the University of Alabama at Birmingham (UAB), the University of Florida (UF), and Duke University Hospital (DUH), between 2012 and 2022.

Case Report: Aplastic anemia related to a novel variant.

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.

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

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 calculate the crude and race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Sickle Cell Data Collection program states. The percentage distribution of birth mother residence within Social Vulnerability Index quartiles was derived.

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

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 selected their preferred treatment alternatives in a series of experimentally controlled pairs of hypothetical gene therapies and a "no gene therapy" option. Gene therapy alternatives were defined based on the chance of eliminating SCD symptoms, expected increases in life expectancy they could offer, treatment-related risk of death, and potential increases in lifetime cancer risk.

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

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 anemia, inherited bone marrow failure syndromes, and myelodysplastic syndromes. The NAPAAC Bone Marrow Failure Diagnosis and Care Guidelines Working Group was established with the charge of harmonizing the approach to the diagnostic workup of aplastic anemia in an effort to standardize best practices in the field. This document outlines the rationale for initial evaluations in pediatric patients presenting with signs and symptoms concerning for severe aplastic anemia.

Pyruvate kinase deficiency in children.

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 registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from 29 centers. Retrospective and prospective clinical data were collected.

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

Background: Total 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 children with CHA requiring TS or PS.

Procedure: We collected data from children ages 2-17 with hereditary spherocytosis (HS) or sickle cell disease (SCD) requiring TS or PS from 1996 to 2016 from 14 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a prospective, observational patient registry.

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

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 41 patients with molecularly confirmed PKD from nine North American centres to evaluate the diagnostic sensitivity of pyruvate kinase (PK) enzyme activity and PK:hexokinase (HK) enzyme activity ratio, and evaluate the erythrocyte PK (PK-R) protein level and erythrocyte metabolites as biomarkers for clinical severity. In this population not transfused for ≥90 days before sampling, the diagnostic sensitivity of the PK enzyme assay was 90% [95% confidence interval (CI) 77-97%], whereas the PK:HK ratio sensitivity was 98% (95% CI 87-100%).

How I approach hereditary hemolytic anemia and splenectomy.

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 are significant risks during and following splenectomy including surgical risks, postsplenectomy sepsis, and thrombotic complications.

Corrigendum: The Spectrum of -Associated Hereditary Spherocytosis.

[This corrects the article DOI: 10.3389/fphys.2019.

The Spectrum of -Associated Hereditary Spherocytosis.

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 (), band 3 (), protein 4.2 (), and α () or β-spectrin ().

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

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 to improve health related quality of life (HRQoL). There are a number of available second-line treatments, including rituximab, thrombopoietin-receptor agonists, oral immunosuppressive agents, and splenectomy, but data comparing treatment outcomes are lacking.

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

Recent evidence has implicated in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between and the previously known causative gene accounting for the similarity in clinical features. Relatively little is known about the phenotypes associated with pathogenic variants in the gene, but the initial indication was that phenotypes may be more severe, when compared with SDS. We report a pediatric patient who presented with a metaphyseal dysplasia and was found to have biallelic variants in on reanalysis of trio whole-exome sequencing data.