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In: Journal of Magnetic Resonance Imaging, Wiley, Vol. 42, No. 1 ( 2015-07), p. 196-203

Type of Medium: Online Resource

ISSN: 1053-1807

URL: Article

DOI: 10.1002/jmri.24752

Language: English

Publisher: Wiley

Publication Date: 2015

detail.hit.zdb_id: 1497154-9

In: Journal of Magnetic Resonance Imaging, Wiley, Vol. 45, No. 2 ( 2017-02), p. 535-541

Type of Medium: Online Resource

ISSN: 1053-1807

URL: Issue

URL: Article

DOI: 10.1002/jmri.v45.2

DOI: 10.1002/jmri.25396

Language: English

Publisher: Wiley

Publication Date: 2017

detail.hit.zdb_id: 1497154-9

In: Pediatric Blood & Cancer, Wiley, Vol. 57, No. 4 ( 2011-10), p. 674-676

Type of Medium: Online Resource

ISSN: 1545-5009

URL: Article

DOI: 10.1002/pbc.22990

Language: English

Publisher: Wiley

Publication Date: 2011

detail.hit.zdb_id: 2130978-4

In: Clinical Chemistry and Laboratory Medicine (CCLM), Walter de Gruyter GmbH, Vol. 58, No. 5 ( 2020-04-28), p. 810-816

Abstract: A fast and reliable method for the determination of hemoglobinopathies and thalassemias by high-resolution accurate mass spectrometry (HRAM/MS) is presented. The established method was verified in a prospective clinical study (HRAM/MS vs. high-pressure liquid chromatography [HPLC]) of 5335 de-identified newborn samples from the Hamburg area. The analytical method is based on a dual strategy using intact protein ratios for thalassemias and tryptic digest fragments for the diagnosis of hemoglobinopathies. Due to the minimal sample preparation and the use of flow injection, the assay can be considered as a high-throughput screening approach for newborn screening programs (2 min/sample). Using a simple dried blood spot (DBS) extraction (tryptic digest buffer), the following results were obtained: (1) a carrier incidence of 1:100 newborns (35 FAS, nine FAC, eight FAD and two FAE), and (2) no homozygous affected patient was detected. Using the HRAM/MS protocol, an unknown Hb mutation was identified and confirmed by genetic testing. In addition to greater specificity toward rare mutations and β-thalassemia, the low price/sample (1–2€) as well as an automated data processing represent the major benefits of the described HRAM/MS method.

Type of Medium: Online Resource

ISSN: 1437-4331 , 1434-6621

URL: Article

DOI: 10.1515/cclm-2019-0832

Language: English

Publisher: Walter de Gruyter GmbH

Publication Date: 2020

detail.hit.zdb_id: 1492732-9

SSG: 15,3

In: Blood, American Society of Hematology, Vol. 138, No. Supplement 1 ( 2021-11-05), p. 973-973

Abstract: Background Worldwide, Sickle Cell Disease (SCD) is the most common single gene disorder affecting & gt;250,000 newborns annually. In Germany, SCD qualifies as a rare disease and almost exclusively affects immigrants from endemic countries and their descendants. The recent surge of immigration from high-prevalence countries increased the numbers of patients with SCD in Germany and raised awareness for the need of specialized care. In 2012, the German Society for Pediatric Oncology and Hematology (GPOH) mandated a consortium of five university hospitals to develop a disease management program for patients with SCD. This consortium issued treatment guidelines for SCD that strongly favor the use of hydroxyurea, initiated patient and physician education events, prepared for a universal newborn screening program that will start 09/2021, moderated a consensus on the indication of allogeneic stem cell transplantation for patients with SCD, and established a national patient registry. Methods In order to quantify the effect of these activities, we made use of claims data that were collected by the research institute (WIdO) of the major German insurance company, the Allgemeine Ortskrankenkasse (AOK), and of publicly accessible data collected by the Federal Statistical Office (Statistisches Bundesamt, Destatis). ICD10 codes were used to identify patients with SCD and their comorbidities. Pharmacologic treatments were quantified using the German Anatomical Therapeutic Chemical (ATC)-Classification with defined daily doses. Results We estimate that the number of patients with SCD in Germany increased from approximately 2,200 in 2011 to approximately 3,200 in 2019. Analyses of administered treatments illustrate that important components of recently issued national treatment guidelines have been largely implemented. Specifically, the use of hydroxyurea has more than doubled, resulting in a proportion of approximately 45% of all patients with SCD being treated with hydroxyurea in 2019 (Figure 1A). In strong negative correlation with the use of hydroxyurea, the frequency of acute chest syndromes decreased (Figure 1B). While before the widespread use of hydroxyurea (2011-2013) 8.1% of patients with SCD were admitted at least once per year for ACS, this proportion dropped to 6.6% in the period 2017 to 2019. Similarly, the proportion of patients who required analgesics, red blood cell transfusions and hospitals admissions declined from 2011 to 2019, indicating a reduced burden of SCD with the increased use of hydroxyurea. Conclusion In sum, these data demonstrate an association between the dissemination of nationwide treatment guidelines and changes in clinical practice in particular relating to the use of hydroxyurea. These changes translate into a remarkable improvement of key measures of disease activity in a representative population based analysis. Figure 1 Figure 1. Disclosures Lobitz: Novartis: Honoraria, Membership on an entity's Board of Directors or advisory committees; AddMedica: Honoraria, Membership on an entity's Board of Directors or advisory committees; Vertex: Honoraria, Membership on an entity's Board of Directors or advisory committees. Kulozik: BioMedX: Consultancy, Honoraria; Novartis: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Sanofi: Consultancy, Honoraria; bluebird bio, Inc.: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Celgene: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood-2021-148550

Language: English

Publisher: American Society of Hematology

Publication Date: 2021

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

In: Blood, American Society of Hematology, Vol. 134, No. Supplement_1 ( 2019-11-13), p. 615-615

Abstract: Background: Sickle cell anemia (SCA) is a monogenic disease resulting in polymerization of hemoglobin in hypoxic conditions. This leads to red blood cell (RBC) membrane damage and sickling, causing vaso-occlusion and hemolysis. Continual, excessive release of lysed RBC contents within the vascular space can activate the inflammasome, a multiprotein oligomer that promotes maturation and secretion of pro-inflammatory cytokines, including interleukin 1-beta (IL-1β). The intravascular inflammation associated with SCA, e.g., increased serum c-reactive protein (CRP) and absolute counts of neutrophils and monocytes, is predictive of long-term morbidity and mortality. Inflammation is a major component of many of the clinical complications of SCA, including vaso-occlusive pain episodes, acute chest syndrome, vascular-endothelial dysfunction, renal disease and other forms of end organ damage. Standard of care for SCA is hydroxyurea, which augments fetal hemoglobin levels and may have some anti-inflammatory effects by reducing neutrophil and monocyte counts. Canakinumab is a fully human monoclonal antibody targeting IL-1ß and blocking its downstream pro-inflammatory activities with potential to ameliorate the inflammatory complications of SCA. Objective:To clinically validate in pediatric and young adult SCA patients the hypothesis that IL-1ß blockade by canakinumab is safe and provides clinical benefits. Methods: A multi-center, randomized, parallel group, double-blind, placebo-controlled trial recruited SCA patients (HbSS or HbS/ß0thalassemia) with history of ≥2 major pain episodes/year, screening baseline detectable pain (using pain e-diaries) and serum high sensitivity CRP level ≥1.0 mg/L. Patients were randomized with 1:1 ratio to receive six monthly s.c. injections of either canakinumab 300 mg (4 mg/kg for patients ≤40 kg) or placebo. The concurrent use of hydroxyurea was a stratification factor at randomization. Outcomes were measured at baseline and at weeks 4, 8, 12, 16, 20, 24, after which all patients moved to open label canakinumab treatment for additional 6 months. Electronic patient reported outcomes included daily pain intensity with a 0-10 cm visual analog scale, school/work absences secondary to SCA, fatigue and analgesic use. The primary outcome was change from baseline in the 4-week average daily pain intensity at week 12. Other secondary and exploratory outcomes included daily activity measured by wrist actigraphy, rate of hospitalization and adverse events, serious adverse events, transcranial Doppler velocities, percent oxygen saturation and laboratory markers of inflammation and hemolysis. Results: A planned interim analysis for futility and safety was performed on the first 30 enrolled patients (canakinumab, n=16; placebo, n=14), of whom 26 patients completed the Week 12 assessments (canakinumab, n=14; placebo, n=12), and 13 patients completed the Week 24 assessments. Enrolled patients (median age 17 years, range 12-20; 19 male, 11 female) were evenly distributed between treatment arms. All except one patient were maintained on a stable hydroxyurea regimen. Baseline overall disease activity levels (median, [range]) included average daily pain 3.93 [0.29, 6.57] ; high sensitivity CRP 3.93 mg/L [1, 64.7]; transcranial Doppler velocities 85.0 m/s [23, 267] ; hemoglobin 94.8 g/L [73.5, 121]. Futi lity criteria were not met and no canakinumab-associated safety issues were identified in this first interim analysis. Conclusions: Canakinumab was well tolerated and not associated with any major side effects in SCA. Results from a second interim analysis of study outcomes for all currently enrolled patients (n=49) completing the blinded, 24-week treatment period will be available in November 2019. Disclosures Rees: Agios: Other: Grants; TauRx (methylene blue): Other: Data monitoring committees; Astra Zeneca (ticagrelor): Other: Data monitoring committees; Novartis: Other: Strategic advisory role,Principal investigator,sickle cell disease2.6 Investigator; Emmaus: Other: Strategic advisory role; Celgene: Other: Strategic advisory role; Global Blood Therapeutics: Other: Strategic advisory role; Alnylam: Other: Principal investigator. Dampier:Micelle Biopharma: Consultancy, Research Funding; Merck: Research Funding; Hudson Publishing Company: Consultancy; Global Blood Therapeutics: Consultancy; Ironwood: Consultancy; Epizyme: Consultancy; Modus Therapeutics: Consultancy; Pfizer: Consultancy, Research Funding; Novartis: Consultancy, Research Funding. Mahlangu:Sanofi Genzyme: Research Funding, Speakers Bureau; Pfizer: Consultancy, Research Funding, Speakers Bureau; Takeda: Consultancy, Honoraria, Speakers Bureau; Novartis: Research Funding; Baxalta: Consultancy, Research Funding, Speakers Bureau; LFB: Consultancy; Biomarin: Research Funding; uniQure: Research Funding; Spark: Consultancy, Speakers Bureau; Chugai: Consultancy; CSL Behring: Consultancy, Research Funding, Speakers Bureau; Freeline Therapeutics: Research Funding; NovoNordisk: Consultancy, Research Funding, Speakers Bureau; Roche: Consultancy, Research Funding, Speakers Bureau; Shire: Consultancy, Research Funding, Speakers Bureau; Sobi: Research Funding, Speakers Bureau; World Federation of Haemophilia: Speakers Bureau. Mortier:Novartis Pharma AG: Employment. McNamara:Novartis Pharma AG: Employment. Li:Novartis Pharma AG: Employment. Oliver:Novartis Pharma AG: Employment, Equity Ownership. OffLabel Disclosure: canakinumab use in the treatment of sickle cell anemia.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood-2019-123355

Language: English

Publisher: American Society of Hematology

Publication Date: 2019

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

In: Blood, American Society of Hematology, Vol. 122, No. 21 ( 2013-11-15), p. 1014-1014

Abstract: Complications of transfusional iron overload vary with the underlying hematologic condition and may be affected by inherent differences in non-transferrin bound iron (NTBI) generation between these conditions. We have previously reported high NTBI levels in Diamond Blackfan anemia (DBA) relative to sickle cell (SCD), despite lower serum ferritin and LIC associated with very low sTfR levels in DBA. This suggested that low transferrin iron utilization in DBA relative to SCD and thalassemia major (TM) accounted for high NTBI levels. It is known that pro-inflammatory cytokine IL6 will increase hepcidin synthesis thereby decreasing ferroportin expression on macrophages but it is not known whether high levels of inflammatory cytokines can overcome or limit the effects of iron overload in raising NTBI and transferrin saturation. Here we have examined additional factors that may affect NTBI levels in different forms of inherited anemias. The relationship of inflammatory markers, the hepcidin/ferritin ratio and monocyte ferroportin in these conditions to NTBI levels have been examined. The possible effect of vitamin C or vitamin D deficiency on NTBI has also been examined. Methods 15 iron-overloaded patients (5 from each group of TM, SCD, and DBA) with ferritin 〉 1500 g/dl or LIC 〉 7 mg/g dry wt, age 16, age 0 to 9 at initiation of transfusion and 10 to 20 years of transfusion exposure were enrolled from 3 sites in the US and Europe. 5 non-transfused healthy controls were also enrolled. Fasting, early morning blood samples (including WBC isolation) were obtained one day prior to transfusion. Chelation was held for 72 hours prior to each sample and samples taken pre-transfusion. Measurement of hepcidin, sTfR, GDF-15, transferrin saturation, NTBI and LPI was as described elsewhere. Inflammatory cytokine IL6 and IL10 were measured by multiplex bead fluorimetry. Ferroportin expression in circulating monocytes, a potential marker of its expression in resident macrophages of spleen, liver and bone marrow was measured by western blotting. Results Results shown in Table 1 are most notable for the following findings: in DBA, the inflammatory markers IL6 and IL10 are high as in SCD or TM. Furthermore plasma hepcidin levels and hepcidin/ferritin ratios are higher in DBA, than in SCD or TM. Despite these high values of hepcidin, IL6 and IL10, monocyte ferroportin levels and NTBI remain high in DBA. This suggests that chronically high levels of circulating hepcidin do not decrease NTBI in patients with low transferrin iron utilization (as in DBA) and that this latter effect combined with iron overload is the more powerful determinant in raising NTBI levels. If the circulating monocytes are a true reflection of resident tissue macrophages that phagocytize red cells, this would suggest that high hepcidin levels are insufficient to suppress ferroportin expression in the presence of severe iron overload. TGFb was most raised in SCD whereas TNFα, were similar in SCD, Thal and DBA. In SCD ferroportin levels on circulating monocytes were lower than DBA and Thal as well as being lower than control which could contribute to low transferrin saturation and low NTBI levels. Vitamin C levels were also lowest and this could contribute to iron retention within macrophages and hence the low NTBI levels observed in SCD. Conclusions Taken with our previous findings (ASH abstract 2012), our results are consistent with NTBI and Tf saturation being determined by an interaction of opposing effects, which vary depending on the underlying cause of anemia. NTBI and Tf saturation are increased by (a) iron overload, (b) low erythropoiesis though low utilization of transferrin iron. The findings in this study extension suggest that vitamin C deficiency in SCD could be a contributing factor to low NTBI and this requires further investigation. However the presence of a raised inflammatory cytokine and raised hepcidin appears to be insufficient to abrogate the combined effects of low utilization of transferrin iron and iron overload on raising NTBI in DBA. Disclosures: Porter: Novartis: Consultancy, Research Funding; Celgene: Consultancy; Shire: Consultancy. Walter:Novartis: Research Funding. Harmatz:Novartis: Research Funding; Shire: Consultancy, Honoraria, Research Funding, travel, travel Other. Vichinsky:Novartis: Honoraria, Research Funding.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood.V122.21.1014.1014

Language: English

Publisher: American Society of Hematology

Publication Date: 2013

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

In: Blood, American Society of Hematology, Vol. 128, No. 22 ( 2016-12-02), p. 2494-2494

Abstract: Background. The TWiTCH multicentre randomised phase III trial showed recently non inferiority of hydroxyurea (HU) with phlebotomy versus transfusions with chelation for primary stroke prevention and management of iron overload in children with sickle cell anemia, having had abnormal transcranial Doppler but no severe vasculopathy and after at least one year of transfusion. Importantly, children in the HU arm received the drug at the maximum tolerated dose (MTD) with escalation of dosage until absolute neutrophil count (ANC) is 〈 3.0 x109/L. Median HU MTD was 27.4 mg/kg/d [IQR 24.0-30.1]). Final average HbF% and ANC were 24.4% and 3.6 x109/L respectively. Most European centers do not try to reach the MTD. Our study aimed to determine median HbF% and ANC (a count 〈 3.0 x109/L being considered as reflecting the achievement of the MTD) in the children included in the European ESCORT-HU cohort to see whether they were within the ranges demonstrated to exert brain protection in the TWiTCH trial. Methods. We extracted data from the ESCORT-HU cohort, which is non-interventional, prospective, observational open-label study on the efficacy and safety of Siklos. The cut-off date was set as February 5th, 2016. Out of the global cohort of 992 patients, 386 patients were aged 2 to 18 years at the time of study initiation. Among them, 233 patients were HU treatment-naïve and initiated Siklos® treatment. A follow-up of at least 12 months and data allowing biological or clinical efficacy evaluations were available in a subgroup of 139 "naïve" (= not previously treated with HU) patients. Our objectives were 1) to collect the dosages of HU and to compare HbF% and ANC before and 12 months after initiation of Siklos® in the subgroup of naïve patients (table 1); 2) to assess the efficacy of HU in this cohort. We compared using Mac-Nemar paired t-test and Wilcoxon sign rank-test in the 12 months period before treatment and 12 months after initiation of treatment i) painful crises 〉 48 hours, ii) acute chest syndromes (ACS), iii) hospitalizations, and iv) blood transfusion (% of patients having had at least 1 event and the total numbers of events); 3) to assess in the total cohort of 386 children the % of children with ANC count within the ranges recommended in the TWiTCH trial, underlining those treated with HU for cerebral vasculopathy (table 2). Results 1) HbF% and ANC in the subgroup of 139 children not previously treated with HU (table 1) 46.8% were males; mean age was 8.1 ± 3.9 years. Genotypes were HbSS, HbSC, HbSb0thalassemia, HbSb+ thalassemia, and unknown in respectively 86.5%, 1.4%, 7.8%, 2.1% and 2.1% of cases. 2) Efficacy data in this subgroup The % of patients having had at least 1 episode and the total numbers of painful crises 〉 48 hours, ACS, hospitalizations, and blood transfusion in the 12 months, decreased significantly under HU (P 〈 0.001). 3) ANC in the total cohort of children from ESCORT-HU cohort (table 2) The total cohort enrolled 386 children, 51.1 % were males, and mean age was 9.65 ± 4.26 years. Genotypes were HbSS, HbSC, HbSb0thalassemia, HbSb+ thalassemia, and unknown in respectively 89.1%, 2%, 4.7%, 2%, and 2.2% of cases. Only 159 patients had one HbF% determination 12 months after inclusion. Out of these, 138 (86.79%) had ANC 〉 3.0 x109/L, their mean HbF was 13.04 ± 8.6 %; 21 (13.20%) had ANC 〈 3.0 x109/L, their mean HbF was 21.02 ± 9.64 %. In conclusion We show that children included in the ESCORT-cohort received median HU dosage quite lower than the one given to children included in the TWiTCH trial which resulted in quite lower HbF %. This dosage was sufficient to very dramatically reduce SCD-related painful events. Whether it can exert the same brain protection as the one demonstrated in the TWiTCH study is so far not known. We encourage physicians to reach MTD when the indication for HU is brain protection. Disclosures De Montalembert: Addmedica: Research Funding; Novartis: Research Funding, Speakers Bureau.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood.V128.22.2494.2494

Language: English

Publisher: American Society of Hematology

Publication Date: 2016

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

In: Blood, American Society of Hematology, Vol. 128, No. 22 ( 2016-12-02), p. 2497-2497

Abstract: ESCORT-HU (European Sickle Cell Disease (SCD) COhoRT - HydroxyUrea) is a multicenter prospective non interventional study implemented in Europe, following the European Medical Agency's request to collect more information focused on long-term safety profile of hydroxycarbamide (HU) in SCD patients treated with HU. Primary endpoint of the study is to determine the frequency of adverse events (AEs) under HU treatment Secondary endpoints include the efficacy of HU in labeled indications (prevention of vaso-occlusive complications and of acute thoracic syndrome), frequency of hospitalizations due to SCD events and frequency of blood transfusions. Data collection on the reason for HU initiation permitted to identify in-label (in the therapeutic indication of the European marketing authorization, group 1, G1) and off-label (other therapeutic indication, group 2, G2) prescriptions of HU. Frequency of AEs (including not related to SCD and infections) was compared between adults and children, both in G1 and G2, with focus on the following subclasses: blood and lymphatic system disorders, fever, gastrointestinal disorders, infection, nervous system disorders, skin and subcutaneous tissue disorders and others. As of 6th June 2016 (cut-off date), a cohort of 1047 sickle cell patients have been enrolled in 3 European countries (Greece, 11.4%, Germany, 13.4%, and France, 75.2%). Of the 1047 patients, 845 (80.7%) have an in-label prescription (478 adults and 367 children), 170 (16.2%) an off-label prescription (61 adults and 109 children), and 32 reported unknown or no indication (Table 1a). As usually observed in any disease, the off-label use is more frequent in children compared to adults (p=0.01). Main reasons for off-label prescription were anemia (31%) (n=9 in adults and n=44 in children), abnormal Transcranial Doppler (TCD) values/cerebral vasculopathy (15%) (n=2 in adults and n=24 in children) and sickle cell organopathy including renal impairment (15%) (n=14 in adults and n=12 in children) (Table 1b). These three indications follow recommendations issued by European clinicians and are in accordance with the last version of US guidelines (JAMA 2014). Mean HU daily doses at initiation were respectively 18 mg/kg (G1) and 17.3 mg/kg (G2) in children, and 16.2 mg/kg (G1) and 13.5 mg/kg (G2) in adults. Not SCD-related AEs were respectively reported in 25% and 27.6% of patients in G1 and G2 groups (Table 2a). Focusing on the number of not-SCD related AE reported in each group, 355 AE have been reported in 211 patients in G1 and 73 AE have been reported in 47 patients in G2. Within G1 group, more AEs were reported in adults (30.8%) vs. children (17.4%) (p 〈 0.01) (Table 2b) but not in G2 group (NS) (Table 2c). When compared by AE type in G1, significant differences appeared between children and adults for the following AE subclasses (p 〈 0.01): infections more frequent in children as usually observed, renal & urinary disorders, immune system disorders more common in adults. Regarding neoplasms benign, immune system disorders, no malignancy has been reported, but mainly cysts (1 ovary, 2 breast), 1 renal tumor and 1 cutaneous lesion (histological types not provided), 1 other (location not reported) (Table 3). All AEs were more frequent in adults except infections. In conclusion, the current ESCORT-HU data confirm the more frequent off-label use of HU in children, a similar frequency of patients reporting not SCD-related AE between the in-label and off-label groups despite a higher number of AE reported in the in-label group, and a significant difference between children and adults in frequency of AEs in the in-label group. Disclosures De Montalembert: Addmedica: Research Funding; Novartis: Research Funding, Speakers Bureau. Ribeil:Bluebirdbio: Consultancy; Addmedica: Research Funding.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood.V128.22.2497.2497

Language: English

Publisher: American Society of Hematology

Publication Date: 2016

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

In: Blood, American Society of Hematology, Vol. 108, No. 11 ( 2006-11-16), p. 3808-3808

Abstract: Since the introduction of an improved blood transfusion and iron chelation therapy in patients with beta-thalassemia major (TM) and intermedia (TI), changes in bone structure and bone deformities are significantly diminished. However, older patients with thalassemia have a higher prevalence for fractures caused by osteoporosis. Additionally, most of these patients suffer from chronic bone pain. In 13 patients (10 TM und 3 TI, age 8 – 32 years), we have measured the bone mineral density (BMD) by dual-energy x-ray absorption (DXA). All patients, except one, regularly received blood transfusions and iron chelation treatment (deferoxamine, deferiprone, or deferasirox). In the young patient group (n = 5, age: 8 -20 y), a mean Z-score of −1.53 was found (Z-score was calculated from age related BMD). In patients 〉 20 years (n = 8, age: 21 – 32 years), a mean T-score of −1.66 was observed (T-score was calculated from BMD related to 30 years). Except two patients, all patients had a decreased BMD in comparison to the normal population. One female patient with normal BMD, already received osteoporosis treatment since 5 years due to initially low BMD. Moreover, all patients had a reduced vertebra height in comparison to the normal population. First results from monitoring the bone density by DXA and the trabecular bone structure by micro-CT, will be reported in all patients after 12 to 18 months under oral supplementation treatment with calcium and vitamin D.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood.V108.11.3808.3808

Language: English

Publisher: American Society of Hematology

Publication Date: 2006

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7