[Recurrent hemolysis and iron overload of unclear origin].

The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis.

[Transition in sickle cell disease - recommendations of the transition initiative sickle cell disease].

Sickle cell disease is a rare, but complex multi-systemic disorder with high need of interdisciplinary and specialized care and new structural requirements. Besides care of those chronically sick patients, transition process is a vulnerable phase which highly influences further treatment. To make matters worse, patients often have migration background with subsequent communication problems.

Finding a balance in reduced toxicity hematopoietic stem cell transplantation for thalassemia: role of infused CD3+ cell count and immunosuppression.

We performed a retrospective analysis on 124 patients with transfusion-dependent thalassemia who were registered in the German pediatric registry for stem cell transplantation. All patients underwent first allogeneic hematopoietic stem cell transplantation (HSCT) between 2011 and 2020 and belonged mainly to Pesaro risk class 1-2. Four-year overall (OS) and thalassemia-free survival (TFS) were 94.

Segmental quantification of hepatic lipid content based on volumetric MRI data in patients with suspected iron overload.

Purpose: To investigate the segmental distribution of hepatic fat fraction, determined with MRI (MR proton density fat fraction, short MR-PDFF) in patients suspected of having liver iron overload.

Methods: The liver of 44 patients examined with MRI using a 3D multi-echo gradient-echo sequence was segmented semiautomatically and subdivided into nine segments (segment 4 divided in 4a and 4b). Segmental fat content was determined on MR-PDFF maps.

Noninvasive liver iron quantification by MRI using refocused gradient-echo (bSSFP): preliminary results.

Purpose: To evaluate the feasibility of using a balanced steady-state free precession sequence (bSSFP) to determine liver iron content (LIC).

Method: Thirty-five consecutive patients with liver iron overload were examined with bSSFP. Signal intensity ratios of liver parenchyma to paraspinal muscles were retrospectively correlated with LIC values obtained by FerriScan, which was used as the reference method.

Volumetric Evaluation of 3D Multi-Gradient-Echo MRI Data to Assess Whole Liver Iron Distribution by Segmental R2* Analysis: First Experience.

Purpose: MR transverse relaxation rate R* has been shown to be useful for monitoring liver iron overload. A sequence enabling acquisition of the whole liver in a single breath hold is now available, thus allowing volumetric hepatic R* distribution studies. We evaluated the feasibility of computer-assisted whole liver segmentation of 3 D multi-gradient-echo MRI data, and compared whole liver R* determination to analyzing only a single slice.

Current German Guidelines on Diagnosis and Treatment of Secondary Hemochromatosis in Patients with Congenital Anemias.

Adequate diagnosis and treatment of secondary hemochromatosis in patients with congenital anemias is important for reducing long-term mortality and morbidity as for improving patients' quality of life. Due to the strong migration movements during recent years, the number of patients in Germany suffering from hemoglobinopathies as some of the most relevant disorders in the context of iron overload (IOL) has increased enormously. Many of these patients had received inadequate medical care in their countries of origin prior to migration, including diagnosis and treatment of IOL.

MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters.

Background And Purpose: Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) is a new, molecularly defined glioneuronal CNS tumor type. The objective of the present study was to describe MR imaging and clinical characteristics of patients with DGONC.

Materials And Methods: Preoperative MR images of 9 patients with DGONC (median age at diagnosis, 9.

[Diagnostics and treatment of alpha- and beta-thalassemias].

Thalassemias are a heterogeneous group of genetic diseases based on a quantitative disorder of globin chain synthesis. They are among the most frequent monogenic hereditary diseases worldwide. Migration during recent years led to a profoundly increasing number of patients in countries where the indigenous population has not been affected.

Iron deficiency anemia and thrombosis risk in children-revisiting an old hypothesis.

Iron deficiency anemia has a high prevalence in children and has repeatedly been implicated as a risk factor for arterial and venous thrombosis. As an effective therapy for iron deficiency anemia is available, understanding the association between this form of anemia and the potentially severe thrombosis phenotype is of major clinical interest. Recent findings shed light on pathophysiology of hypercoagulability resulting from iron-restricted erythropoiesis.

Transition in Sickle Cell Disease (SCD): A German Consensus Recommendation.

Sickle cell disease (SCD) is considered a rare disease in Germany. Due to the increasing prevalence, the acute and chronic morbidities associated with the disease and the sharp increase in the mortality rate of young adults, a need-based transition structure for patients with SCD in Germany is explicitly required. This is the first multicenter German consensus statement addressing the importance of implementing a standardized transition guideline that allows adolescents and young adults to safely transition from pediatric to adult care.

Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives.

This monocentric study conducted at the Pediatric and Adult Hemoglobinopathy Outpatient Units of the University Hospital of Essen summarizes the results of hemoglobinopathies diagnosed between August 2018 and September 2021, prior to the introduction of a general newborn screening (NBS) for SCD in Germany (October 2021). In total, 339 patients (pts.), 182 pediatric [50.

Differences between capillary and venous blood counts in children-A data mining approach.

Background: Capillary sampling of blood counts is a well-established alternative to venipuncture in paediatrics. However, the sampling method has to be considered when interpreting test results, as measurements differ. Ethical and practical considerations prevent simultaneous venous and capillary sample acquisition in comprehensive paediatric cohorts that span all ages for the purpose of a direct method comparison, resulting in uncertainty regarding the interpretation of capillary test results.

Influence of Turkish origin on hematology reference intervals in the German population.

Reference intervals for laboratory test results have to be appropriate for the population in which they are used to be clinically useful. While sex and age are established partitioning criteria, patients' origin also influences laboratory test results, but is not commonly considered when creating or applying reference intervals. In the German population, stratification for ethnicity is rarely performed, and no ethnicity-specific hematology reference intervals have been reported yet.

Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011-2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome.

Sickle Cell Disease (SCD) is the most common monogenic disorder globally but qualifies as a rare disease in Germany. In 2012, the German Society for Paediatric Oncology and Haematology (GPOH) mandated a consortium of five university hospitals to develop a disease management program for patients with SCD. Besides other activities, this consortium issued treatment guidelines for SCD that strongly favour the use of hydroxyurea and propagated these guidelines in physician and patient education events.

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Secondary thrombocytosis is a frequent secondary finding in childhood infection and inflammation. Primary hereditary thrombocytosis may be caused by germline mutations within the genes encoding key regulators of thrombopoiesis, i.e.

High-resolution pediatric reference intervals for 15 biochemical analytes described using fractional polynomials.

Objectives: Assessment of children's laboratory test results requires consideration of the extensive changes that occur during physiological development and result in pronounced sex- and age-specific dynamics in many biochemical analytes. Pediatric reference intervals have to account for these dynamics, but ethical and practical challenges limit the availability of appropriate pediatric reference intervals that cover children from birth to adulthood. We have therefore initiated the multi-center data-driven project (Next-Generation Pediatric Reference Intervals) to create pediatric reference intervals using data from laboratory information systems.