Thalassemia intermedia: Revisited

Taher, Ali T.; Isma’eel, Hussain; Cappellini, Maria Domenica

doi:10.1016/j.bcmd.2006.04.005

Cited by 271 publications

(242 citation statements)

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“…35 The degree of ineffective erythropoiesis is the primary determinant in the severity of anemia, however several specific complications are thought to be more frequent in TI than in thalassemia major, such as thrombosis, pulmonary hypertension, extramedullary erythropoietic masses, leg ulcers and cholelithiasis. The rates of almost all complications are significantly higher in splenectomized patients than in nonsplenectomized patients.…”

Section: Discussionmentioning

confidence: 99%

Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase

Ferru

Pantaleo

Carta³

et al. 2013

Haematologica

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© F e r r a t a S t o r t i F o u n d a t i o ndifferent genetic and clinical status provided new insights into the pathogenic role of circulating MP and possible interventions to control their amount in thalassemia. MethodsUnless otherwise stated, all materials were obtained from Sigma-Aldrich, St. Louis, MO, USA. Additional information about the methods are provided in the Online Supplementary Data. Treatment of red blood cellsVenous blood was drawn from 12 healthy individuals, eight non-splenectomized TI patients and six splenectomized TI patients. All subjects provided written, informed consent before entering the study. The study was approved by the local Ethics Committee and conducted in accordance with Good Clinical Practice guidelines and the Declaration of Helsinki.Clinical analyses were performed by routine laboratory tests at the Policlinico Hospital (Milan, Italy). Blood anti-coagulated with heparin was stored in citrate-phosphate-dextrose with adenine (CPDA-1) prior to its use. RBC were washed three times with phosphate-buffered saline (PBS: 137mM NaCl, 2.7mM KCl, 8.1mM K 2 HPO 4 , 1.5mM KH 2 PO 4 , pH 7.4) containing glucose 5 mM to obtain packed RBC.To stimulate HMC formation, RBC from healthy donors were suspended at a hematocrit of 30% and incubated with different concentrations (0, 0.25, 0.5, 1, 1.5, 2 mM) of phenylhydrazine at 37 °C for 4 h. To test the antioxidant effect in MP release we incubated 200 μM of 2-mercaptoethanol in the presence of 1 mM phenylhydrazine. When necessary, RBC were pretreated with Syk kinase inhibitors (10 μM Syk inhibitors II and 10 μM Syk inhibitors IV, Calbiochem, Darmstadt, Germany), for 1 h at 37 °C in the dark. Each reaction was terminated by three washes with PBS-glucose. For all protocols described, untreated controls were processed identically except that the stimulant/inducer was omitted from the incubation. Red blood cell membrane preparationStandard hypotonic membranes were prepared, as previously described, 20 and stored frozen at -80°C until use. Membrane protein content was quantified using the DC Protein assay (Biorad, Hercules, CA, USA). Analysis of microparticlesThe MP in plasma were analyzed by flow cytometry using a modification of a previously described method:22 25 μL of plasma diluted 1:1 with PBS-glucose 5mM were analyzed using anti-CD41 (BD, Franklin Lakes, NJ, USA) and anti-glycophorin-A (Dako, Denmark), both diluted 1:10. Assay of hemichromesHMC were quantified by measuring heme absorbance (Abs) using the following equation:HMC= -133xAbs577 -114xAbs630 + 233xAbs560, and expressed as nMoles/mL of solubilized membranes. 23 Microparticle isolationTo induce MP release in vitro, RBC from each volunteer and phenylhydrazine-treated RBC in PBS (30% hematocrit) were incubated as previously described. 24 Electrophoresis and immunoblottingMembrane and MP proteins were solubilized in Laemmli buffer 25 under reducing [2% (w/v) dithiothreitol] or non-reducing conditions at a volume ratio of 1:1. Sodium dodecylsulfate polyacrylamide gel electropho...

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Section: Discussionmentioning

confidence: 99%

Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase

Ferru

Pantaleo

Carta³

et al. 2013

Haematologica

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“…6,11,88,90 Thalassemia minor is generally an asymptomatic condition, associated with erythrocyte morphology abnormalities, but with discrete hypochromic and microcytic anemia. This becomes more likely to occur during childhood, pregnancy or situations of physiological stress.…”

Section: β-Thalassemiamentioning

confidence: 99%

Genética das doenças hematológicas: as hemoglobinopatias hereditárias

Sonati¹,

Costa²

2008

J. Pediatr. (Rio J.)

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Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population.Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings:More than 2,000 articles were identified; those providing the most important information and broadest views were selected.Conclusions: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases. J Pediatr (Rio J). 2008;84(4 Suppl):S40-51:Hereditary hemoglobinopathies, sickle cell diseases, β-thalassemia.

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“…Erythroid hypertrophy aggravates ineffective erythropoiesis in medullary and extramedullary regions, resulting in characteristic deformities in the head and face. Cortical thinning and pathological fractures of the long bones may be seen (2)(3)(4). Ear complaints are very rare in patients with beta thalassemia.…”

Section: Introductionmentioning

confidence: 99%

Otalgia as the first presenting complaint in a patient with beta thalassemia: Case Report

Özdaş¹,

Özcan²,

Özdoğan³

et al. 2015

Turk J Bioch

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Beta talasemi gen mutasyonlarının sebep olduğu hematolojik bir hastalıktır ve Türkiye'yi de içeren tüm Akdeniz ülkelerinde önemli bir halk sağlığı problemi teşkil etmektedir. Talasemi intermedia talasemi major ve talasemi minor arasındaki bir ara formdur. Temporal kemik tutulumu talasemi intermediada oldukça nadirdir. Literatürde otalji ile birlikte olan ve talasemi minor tanısı alan vaka bulunmamaktadır. Bizim hastamız 10 aydır sol kulak ağrısı ve işitme kaybı çekmektedir. Bu vakada, yapılan tetkikler sonucunda talasemi intermedia tanısı alan ve manyetik rezonans görüntülemede temporal kemik tutulumu olan 44 yaşında bir erkek hasta sunulmaktadır.Beta thalassemia is a hematological disease caused by gene mutations and represents an important public health problem in all Mediterranean countries, including Turkey. Thalassemia intermedia is an intermediate form between thalassemia major and thalassemia minor. Temporal bone involvement is quite rare in thalassemia intermedia. There are no cases in the literature who presented with otalgia and was subsequently diagnosed with thalassemia intermedia. Our patient had suffered from left ear pain and hearing loss for 10 months. In this case report, a 44-yearold male patient is presented who was diagnosed with thalassemia intermedia based on the examinations performed and had temporal bone involvement on magnetic resonance imaging.Anahtar Kelimeler: Talasemi intermedia, otalji, temporal kemik.

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Thalassemia intermedia: Revisited

Cited by 271 publications

References 73 publications

Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase

Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase

Genética das doenças hematológicas: as hemoglobinopatias hereditárias

Otalgia as the first presenting complaint in a patient with beta thalassemia: Case Report

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