Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency.

Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition of the disease spectrum has recently expanded, data describing its impact on health-related quality of life (HRQoL) are limited. In this prospective international cohort of 254 patients (131 adults and 123 children) with PKD, we used validated measures to assess the impact of disease on HRQoL (EuroQol 5-Dimension Questionnaire, Pediatric Quality of Life Inventory Generic Core Scale version 4.

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.

Comorbidities and complications in adults with pyruvate kinase deficiency.

Objectives: Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population remain poorly quantified.

Methods: Data for patients aged ≥ 18 years with two confirmed PKLR mutations were obtained from the PK deficiency Natural History Study (NCT02053480).

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

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 history and laboratory and radiologic data were retrospectively collected at enrollment for 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia that required transfusions, hyperbilirubinemia, hydrops, and prematurity.

Near-total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity.

We prospectively studied the efficacy of near total splenectomy (NTS) for managing hereditary spherocytosis (HS) based on haemoglobin (Hb), total bilirubin and splenic remnant regrowth in 30 children receiving NTS for HS between November 1996 and December 2004 (mean followup 3.6 years). Patients were classified into three severity groups.

Immunogenicity of sequential pneumococcal vaccination in subjects splenectomised for hereditary spherocytosis.

Splenectomy predisposes for invasive pneumococcal disease. We investigated the immune response of splenectomised hereditary spherocytosis (HS) patients upon sequential pneumococcal vaccination. Thirty-nine HS-patients (2- to 18-year-old) had undergone near-total or total splenectomy.

Near-total splenectomy: a new technique for the management of hereditary spherocytosis.

Objective: The authors used a new surgical technique of near-total splenectomy (NTS) and report their experience.

Summary Background Data: Total splenectomy is indicated for the management of patients with hereditary spherocytosis but may be complicated by severe infections and thromboembolic events. Studies have shown that partial or subtotal parenchymal resections can lead to excessive regeneration of the residual parenchyma.

Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with beta-thalassemia.

Objective: This study was undertaken to describe the radiographic and MRI appearances of arthropathy of the knees in 14 patients with beta-thalassemia major undergoing chelation therapy with deferiprone (L1).

Materials And Methods: All available radiographs and MRI studies of the knees in 14 beta-thalassemia major patients (mean age, 16.3 years; age range, 7-33 years) undergoing chelation therapy with L1 were retrospectively assessed for changes in the synovium, cartilage, and bone.

Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis.

Nonsense/stop mutations in the ankyrin-1 gene (ANK1) are a major cause of dominant HS (dHS) (frequency of 23% in German dHS patients). To date, no common mutation has been found and therefore a simple mutation screening is not feasible. The reduced expression of one cDNA allele in the (AC)n microsatellite polymorphism of the ankyrin-1 gene, as seen in about 20% of Czech patients with dHS, may identify candidates with a possible frameshift/nonsense mutation.