Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 29
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Ann Hematol ; 96(9): 1541-1546, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28707012

RESUMO

We retrospectively evaluated the relationship between serum transferrin receptor-1 (sTfR1) and some fundamental events in the life and the management (the age at diagnosis, the age at the first red blood cells transfusion, the age at splenectomy, and the overall need of chelation therapy) of 111 patients with non-transfusion-dependent thalassemia (NTDT) subdivided in four genetic entities: patients with homozygous or compound heterozygous state for ß-thalassemia, patients with triplicated α genotype associated with ß heterozygosity, patients with deletional HbH, and patients with the combination of a ß defect plus a ß chain variant. We found that the group with homozygous or compound heterozygous state for ß-thalassemia had the highest sTfR1 levels and that the presence of increased sTfR1 levels (>5 times normal) was associated with a complex and severe history of disease requiring splenectomy, occasional red blood cells transfusions, and early start and continuous iron chelation therapy.The complexity in the management of NTDT patients is an emerging issue due to the wide heterogeneity of clinical behavior. Our data indicate that the measurement of sTfR1 levels, a common laboratory test, could contribute to correctly stratify disease history and the iron chelation strategy in NTDT patients.


Assuntos
Antígenos CD/sangue , Sobrecarga de Ferro/sangue , Sobrecarga de Ferro/diagnóstico , Receptores da Transferrina/sangue , Talassemia beta/sangue , Adolescente , Adulto , Fatores Etários , Antígenos CD/genética , Criança , Pré-Escolar , Transfusão de Eritrócitos/efeitos adversos , Feminino , Humanos , Quelantes de Ferro/administração & dosagem , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/genética , Masculino , Pessoa de Meia-Idade , Receptores da Transferrina/genética , Talassemia beta/genética , Talassemia beta/terapia
2.
Blood Cells Mol Dis ; 57: 97-9, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26810455

RESUMO

Patients with Non-Transfusion-Dependent Thalassemia may require regular transfusion therapy. However, these patients are at risk of developing irregular antibodies, making them untransfusable. Second line treatment usually includes hydroxyurea, which however is not effective in all patients. Other treatment options include thalidomide, which has been reported to be safe and effective in selected patients. We report the case of a patient who experienced improvement of hemoglobin levels and of a part of NTDT related complications, following 36months of continuous therapy with low doses of thalidomide.


Assuntos
Imunossupressores/uso terapêutico , Talassemia/terapia , Talidomida/uso terapêutico , Antidrepanocíticos/efeitos adversos , Transfusão de Sangue , Medula Óssea/efeitos dos fármacos , Medula Óssea/patologia , Esquema de Medicação , Feminino , Hemoglobina Fetal/metabolismo , Hemoglobina A2/metabolismo , Humanos , Hidroxiureia/efeitos adversos , Isoanticorpos/biossíntese , Pessoa de Meia-Idade , Esplenectomia , Talassemia/sangue , Talassemia/patologia , Talassemia/cirurgia , Resultado do Tratamento
3.
Blood Cells Mol Dis ; 49(3-4): 133-5, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22705193

RESUMO

Few data are available on the prevalence and the risk factors for the presence of kidney stones and hyperuricemia in patients with thalassemia intermedia. We retrospectively reviewed the charts and radiological studies of 89 patients with thalassemia intermedia followed at our clinic with routine biochemical examination and radiological imaging of the urinary tract. Renal calculi were identified in 11 patients (12%) and 22 patients (25%) were under uricosuric treatment for hyperucemia. The prevalence of nephrolithiasis increased with age but not in a statistically significant manner. Major risk factors for renal stone formation were splenectomy (in 91% of the cases) and higher number of erythroblasts. Patients with renal stones had higher mean creatinine level and lower GFR value with respect to those observed in patients not affected. Our data suggest that splenectomy, by further increasing erythrocyte turnover and number, may be directly involved in the pathogenesis of hyperuricemia and nephrolithiasis observed in thalassemia intermedia patients.


Assuntos
Hiperuricemia/patologia , Cálculos Renais/patologia , Talassemia beta/patologia , Adolescente , Adulto , Fatores Etários , Idoso , Creatinina/sangue , Eritroblastos/patologia , Contagem de Eritrócitos , Eritrócitos/patologia , Feminino , Taxa de Filtração Glomerular , Humanos , Hiperuricemia/sangue , Hiperuricemia/etiologia , Hiperuricemia/cirurgia , Cálculos Renais/sangue , Cálculos Renais/etiologia , Cálculos Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Esplenectomia , Ácido Úrico/sangue , Talassemia beta/sangue , Talassemia beta/complicações , Talassemia beta/cirurgia
4.
Ann Hematol ; 91(6): 905-9, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22167341

RESUMO

In thalassemia intermedia (TI), the increase in bone marrow hemopoietic activity frequently leads to extramedullary erythropoeisis (EMH), but its relationship with the soluble form of transferrin receptor (sTfR) which fully reflects the marrow erythropoietic activity, has not yet been explored. From January 2007 to December 2010, all TI patients attending at our center were prospectively enrolled to undergo sTfR assay and MRI or CT (if claustrophobic) scan evaluation for the presence of paraspinal EMH. A total of 59 patients with TI were studied; EMH involved 23 (39%) patients; overall, the concentration of sTfR varied from 2.6 to 20.6 (mean = 8.7) mg/L, but in splenectomized group and in unsplenectomized group, it varied from 4.2 to 17.8 (mean ± SD = 9.86 ± 3.33) mg/L and from 2.6 to 20.6 (mean ± SD = 7.25 ± 3.9) mg/L, respectively with a statistically significant intergroup difference (p < 0.01). The cutoff point at 8.6 mg/L using the ROC curve showed a sensitivity of 78.3% and a specificity of 72.2%, in predicting EMH but, in unsplenectomized subgroup, they raised to 100% and 90.9%, respectively. These data showed that in TI the level of sTfR could represent a predictive factor of EMH particularly in patients with spleen.


Assuntos
Eritropoese/fisiologia , Hematopoese Extramedular/fisiologia , Receptores da Transferrina/sangue , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/fisiopatologia , Adolescente , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Isoformas de Proteínas/sangue , Receptores da Transferrina/análise , Receptores da Transferrina/química , Tamanho da Amostra , Solubilidade , Adulto Jovem
6.
Acta Haematol ; 125(4): 222-4, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21273766

RESUMO

In this report, we present a case of a spontaneous pregnancy in a 42-year-old thalassemic woman referred to our Microcythemic Unit while she was on deferasirox (DFX) therapy. The patient had been on treatment with DFX since March 2008 and in March 2009 realized that she was pregnant at 12 weeks of gestation. The conception was spontaneous and the baby was born at full term without complications or malformations.


Assuntos
Benzoatos/uso terapêutico , Quelantes de Ferro/uso terapêutico , Complicações Hematológicas na Gravidez/tratamento farmacológico , Triazóis/uso terapêutico , Talassemia beta/tratamento farmacológico , Administração Oral , Adulto , Benzoatos/administração & dosagem , Deferasirox , Feminino , Humanos , Idade Materna , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Triazóis/administração & dosagem
7.
Sci Rep ; 11(1): 20793, 2021 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-34675240

RESUMO

In Europe, multiple waves of infections with SARS-CoV-2 (COVID-19) have been observed. Here, we have investigated whether common patterns of cytokines could be detected in individuals with mild and severe forms of COVID-19 in two pandemic waves, and whether machine learning approach could be useful to identify the best predictors. An increasing trend of multiple cytokines was observed in patients with mild or severe/critical symptoms of COVID-19, compared with healthy volunteers. Linear Discriminant Analysis (LDA) clearly recognized the three groups based on cytokine patterns. Classification and Regression Tree (CART) further indicated that IL-6 discriminated controls and COVID-19 patients, whilst IL-8 defined disease severity. During the second wave of pandemics, a less intense cytokine storm was observed, as compared with the first. IL-6 was the most robust predictor of infection and discriminated moderate COVID-19 patients from healthy controls, regardless of epidemic peak curve. Thus, serum cytokine patterns provide biomarkers useful for COVID-19 diagnosis and prognosis. Further definition of individual cytokines may allow to envision novel therapeutic options and pave the way to set up innovative diagnostic tools.


Assuntos
COVID-19/sangue , COVID-19/epidemiologia , Citocinas/sangue , Idoso , Biomarcadores/sangue , Teste para COVID-19 , Estudos de Casos e Controles , Citocinas/metabolismo , Análise Discriminante , Feminino , Humanos , Interleucina-6/metabolismo , Interleucina-8/metabolismo , Itália/epidemiologia , Aprendizado de Máquina , Masculino , Pessoa de Meia-Idade , Pandemias , Análise de Regressão , SARS-CoV-2
8.
Biology (Basel) ; 10(8)2021 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-34439967

RESUMO

In December 2019, a novel coronavirus, "SARS-CoV-2", was recognized as the cause of coronavirus disease 2019 (COVID-19). Several studies have explored the changes and the role of inflammatory cells and cytokines in the immunopathogenesis of the disease, but until today, the results have been controversial. Based on these premises, we conducted a retrospective assessment of monocyte intracellular TNF-α expression (iTNF-α) and on the frequencies of lymphocyte sub-populations in twenty-five patients with moderate/severe COVID-19. We found lymphopenia in all COVID-19 infected subjects compared to healthy subjects. On initial observation, in patients with favorable outcomes, we detected a high absolute eosinophil count and a high CD4+/CD8+ T lymphocytes ratio, while in the Exitus Group, we observed high neutrophil and CD8+ T lymphocyte counts. During infection, in patients with favorable outcomes, we observed a rise in the lymphocyte count, in the monocyte and in Treg lymphocyte counts, and in the CD4+ and in CD8+ T lymphocytes count but a reduction in the CD4+/CD8+ T lymphocyte ratio. Instead, in the Exitus Group, we observed a reduction in the Treg lymphocyte counts and a decrease in iTNF-α expression. Our preliminary findings point to a modulation of the different cellular mediators of the immune system, which probably play a key role in the outcomes of COVID-19.

9.
Mol Carcinog ; 49(10): 892-901, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20672320

RESUMO

N(6)-isopentenyladenosine (i6A) inhibits the tumor cell growth by inducing cell apoptosis in various cancer cell lines. However, little is known regarding the mechanisms by which the drug induces cell apoptosis. In this study, we further explored the molecular mechanisms of i6A as an anticancer agent on a human breast cancer cell line MDA MB 231. Treatment with i6A decreased the cell proliferation of MDA MB 231 cells in a dose-dependent manner by arresting the cells at G(0)/G(1) phase. This effect was strongly associated with concomitant decrease in the level of cyclin D1, cyclin E, cdk2, and increase of p21waf1 and p27kip. In addition i6A also induced apoptotic cell death by increasing the expression of Bax, and decreasing the levels of Bcl-2 and Bcl-xL, and subsequently triggered mitochondria apoptotic pathway (release of cytochrome c and activation of caspase-3). We observed that i6A suppressed the nuclear factor kappaB (NF-κB) pathway and inhibited the Akt activation. The results of this study indicate that i6A decreases cell proliferation and induces apoptotic cell death in human breast cancer cells, possibly by decreasing signal transduction through the Akt/NF-κB cell survival pathway.


Assuntos
Apoptose/efeitos dos fármacos , Neoplasias da Mama/tratamento farmacológico , Quinase 2 Dependente de Ciclina/metabolismo , Isopenteniladenosina/farmacologia , NF-kappa B/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Antineoplásicos/metabolismo , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Caspase 3/metabolismo , Ciclo Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Núcleo Celular/metabolismo , Núcleo Celular/patologia , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Citocromos c/metabolismo , Citocromos c/farmacologia , Citocromos c/uso terapêutico , Feminino , Humanos , Isopenteniladenosina/metabolismo , Isopenteniladenosina/uso terapêutico , NF-kappa B/farmacologia , NF-kappa B/uso terapêutico , Transdução de Sinais/efeitos dos fármacos , Proteína X Associada a bcl-2/metabolismo , Proteína X Associada a bcl-2/farmacologia
10.
Eur J Haematol ; 85(1): 36-42, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20331740

RESUMO

OBJECTIVES: The benefits of combined chelation therapy with daily deferiprone (DFP) and subcutaneous desferrioxamine (DFO) have been widely reported in literature. We retrospectively evaluated the efficacy of different schedules of combined chelation therapy and the incidence of adverse events. METHODS: We evaluated 36 patients affected by thalassemia major treated with combined chelation therapy. Patients were subdivided into four treatment arms according to severity of iron overload and previous onset of adverse events to DFP therapy: Group 1 (13 pts) DFP 75 mg/kg per d plus DFO (25-35 mg/kg per d for 5 d); Group 2 (6 pts) DFP 50 mg/kg per d plus DFO (25-35 mg/kg for 5 d), Group 3 (10 pts) DFP 75 mg/kg per d plus DFO (25-35 mg/kg for 3 d), and Group 4 (7 pts) DFP 50 mg/kg per d plus DFO (25-35 mg/kg for 3 d). Change in serum ferritin level was evaluated in all patients. RESULTS: Overall, ferritin decreased from 2592 +/- 1701 to 899 +/- 833 ng/mL (P < 0.001). All treatments were able to reduce ferritin levels, but in patients of group 1 and group 2 the highest mean decrease in serum ferritin level and the greatest improvement in liver iron concentration (LIC) and in T2* values were observed. CONCLUSIONS: This study showed that the administration of DFO for 5 d a wk in combination with daily administration of DFP at 75 mg/Kg seemed to be the most efficacy and rapid method for reducing iron overload at liver and heart level. Furthermore, the use of different schedules of combined DFO and DFP administration was not associated with different incidence of adverse effects between the groups.


Assuntos
Terapia por Quelação , Desferroxamina/administração & dosagem , Piridonas/administração & dosagem , Talassemia beta/tratamento farmacológico , Adolescente , Adulto , Deferiprona , Esquema de Medicação , Quimioterapia Combinada , Feminino , Ferritinas/sangue , Humanos , Ferro/metabolismo , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/metabolismo , Fígado/efeitos dos fármacos , Fígado/metabolismo , Masculino , Pessoa de Meia-Idade , Miocárdio/metabolismo , Estudos Retrospectivos , Sideróforos/administração & dosagem , Adulto Jovem
11.
Acta Haematol ; 123(2): 117-20, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20068283

RESUMO

In this report we present a 37-year-old thalassemia patient with hyperferritinemia referred to our Microcytemia Centerat the beginning of deferasirox (DFX) therapy. Treatment with subcutaneous infusions of desferrioxamine (DFO) had started when he was 10 years old. During the 6-month DFX treatment, serum ferritin levels progressively increased from 600 to 2,700 ng/ml despite progressive DFX dose adjustments.This paradoxically abnormal ferritin levels required drug discontinuation but were not paralleled by a similar iron burden in T2 * magnetic resonance imaging. In this clinical case, ferritin levels were inappropriately increased following initiation of DFX treatment, but in the presence of an almost unmodified pattern of organ iron overload. Excluding the diagnostic dilemma of an improbable failure of DFX chelation, the pathogenesis of this phenomenon remains to be clarified, thus further complicating the problem of ferritin specificity and its role in monitoring chelation efficacy and in adapting DFX dosage in a limited period of treatment.


Assuntos
Benzoatos/efeitos adversos , Terapia por Quelação/efeitos adversos , Ferritinas/sangue , Sobrecarga de Ferro/etiologia , Triazóis/efeitos adversos , Talassemia beta/tratamento farmacológico , Adulto , Deferasirox , Humanos , Quelantes de Ferro/uso terapêutico , Sobrecarga de Ferro/tratamento farmacológico , Masculino , Talassemia beta/complicações
12.
Int J Cancer ; 124(6): 1322-9, 2009 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-19058178

RESUMO

N(6)-isopentenyladenosine (i6A) is a modified nucleoside with a pentaatomic isopentenyl derived from mevalonate that induces inhibition of tumor cell proliferation and apoptosis in several tumor cell lines. In this study, we reported that N(6)-isopentenyladenosine inhibited the proliferation and promotes apoptosis in DLD1 human colon cancer cells. It suppressed the proliferation of cells through inhibition of DNA synthesis, causing a cell cycle arrest that correlated with a decrease in the levels of cyclin E, cyclin A and cyclin D1 and with a concomitant increase in the levels of cyclin-dependent kinase inhibitor p21waf and p27kip1. Moreover, it induced apoptosis through an increase in the number of annexin V-positive cells, a downregulation of antiapoptotic products and caspase-3 activation. The apoptotic effects of N(6)-isopentenyladenosine were accompanied by sustained phosphorylation and activation of c-jun N-terminal kinase (JNK) that induced phosphorylation of c-jun. Overall, our data show that JNK, could play an important role in i6A-mediated apoptosis in DLD1 human colon cancer cells.


Assuntos
Apoptose/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Neoplasias do Colo/patologia , Isopenteniladenosina/farmacologia , Ciclo Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Fragmentação do DNA/efeitos dos fármacos , Ativação Enzimática/efeitos dos fármacos , Citometria de Fluxo , Humanos , Proteínas Quinases JNK Ativadas por Mitógeno/efeitos dos fármacos , Proteínas Quinases JNK Ativadas por Mitógeno/metabolismo , Fosforilação , RNA Mensageiro/genética , RNA Neoplásico/genética
16.
Eur J Haematol ; 82(3): 219-22, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19215610

RESUMO

OBJECTIVES: Hypocholesterolemia has been previously described in patients affected by thalassemia. In this study we retrospectively evaluated the cholesterol level in two groups of patients affected by either thalassemia major (TM) or thalassemia intermedia (TI), with the aim of establishing factors correlated to hypocholesterolemia within both populations. METHODS: All patients referring to our Unit of Thalassemia were considered. Observation time, defined as the interval between the first and last set of laboratory test, was 2 yr (January 2005-December 2006). RESULTS: We found that patients with TI had significantly lower cholesterol and hemoglobin level as compared with TM patients. In addition there was no correlation between groups with identical genotype and cholesterol levels in both populations. However, within the TI group, lower values of cholesterol were found in patients with more severe genotype and lower body mass index. CONCLUSIONS: Our data support the hypothesis that, independently from single genotype involved, the reduced level of cholesterol in patients with TI are sustained by active erythropoiesis which increases cholesterol requirement.


Assuntos
Colesterol/sangue , Dislipidemias/sangue , Dislipidemias/genética , Talassemia/sangue , Talassemia/genética , Adulto , Dislipidemias/complicações , Dislipidemias/patologia , Feminino , Genótipo , Humanos , Masculino , Talassemia/complicações , Talassemia/patologia
17.
Hematology ; 23(8): 522-525, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29303050

RESUMO

OBJECTIVES: Non-transfusion-dependent thalassemia includes a variety of phenotypes and genotypes that rarely require regular transfusions. However, these patients can experience a wide range of complications. The objective of this retrospective study was to verify whether there is a significant difference in non-transfusion-dependent thalassemia-related complications and treatment among males and females. METHODS: We performed a re-analysis of samples evaluated in a previously published cross-sectional study, regarding 96 non-transfusion-dependent thalassemia patients followed at the 'UOSD Malattie Rare del Globulo Rosso' Centre of the Cardarelli Hospital in Naples, Italy. RESULTS: We found that females were more anemic than males, but there was no significant difference in prevalence of common complications among genders, except for hypogonadism. Furthermore, the transitory regular transfusions regimen in women who had been pregnant does not seem to have a significant impact on overall prognosis. DISCUSSION: In non-transfusion-dependent thalassemia patients, the lower levels of hemoglobin found in females do not seem to indicate a higher prevalence of complications. CONCLUSION: This data should be considered in studies with experimental treatments aiming to correct anemia in patients with non-transfusion-dependent thalassemia. It should probably also be taken into account in order to set up different transfusion regimens among genders in transfusion-dependent patients.


Assuntos
Caracteres Sexuais , Talassemia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Talassemia/sangue , Talassemia/epidemiologia
18.
Mol Cancer Ther ; 5(5): 1318-24, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16731765

RESUMO

Aspirin displays, at millimolar concentrations, several mechanisms independent from its ability to inhibit cyclooxygenases. Occasionally, the mechanisms displayed in vitro have been clearly related to an effect of clinical relevance in vivo. An expanding literature has been focusing on the cytoprotective effect of aspirin in neurodegenerative disorders and the activation of AKT pathway in neuroprotection and induction of resistance to anticancer drugs. In this work, we tested the ability of aspirin to activate the AKT survival pathway in methylcholanthrene-induced fibrosarcoma cells (Meth A) transplanted into BALB/c nude mice and the clinical effect of aspirin cotreatment during etoposide (VP-16)-based anticancer therapy. We found that cotreatment with aspirin reduced VP-16-induced apoptosis and activated AKT in vitro and in vivo. In Meth A-bearing mice, aspirin administration also activated glycogen synthase kinase-3 and reduced the activity and the efficacy of anticancer therapy in VP-16 cotreated animals. Our data suggest that the antiapoptotic effect of aspirin operates in vivo through the activation of AKT-glycogen synthase kinase pathway causing a decrease in the outcome of VP-16-based therapy. These findings could have clinical relevance in treatment of human malignancies.


Assuntos
Antineoplásicos Fitogênicos/antagonistas & inibidores , Aspirina/farmacologia , Etoposídeo/antagonistas & inibidores , Quinases da Glicogênio Sintase/metabolismo , Neoplasias Experimentais/tratamento farmacológico , Proteínas Proto-Oncogênicas c-akt/metabolismo , Animais , Anti-Inflamatórios não Esteroides/metabolismo , Anti-Inflamatórios não Esteroides/farmacologia , Antineoplásicos Fitogênicos/uso terapêutico , Aspirina/metabolismo , Etoposídeo/uso terapêutico , Feminino , Fibrossarcoma/induzido quimicamente , Fibrossarcoma/metabolismo , Metilcolantreno , Camundongos , Camundongos Endogâmicos BALB C , Transplante de Neoplasias , Fosfatidilinositol 3-Quinases/metabolismo , Transdução de Sinais/efeitos dos fármacos , Fatores de Tempo , Células Tumorais Cultivadas
19.
Hematology ; 22(7): 437-443, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28218017

RESUMO

OBJECTIVE: To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies. METHODS: Here we report the results of a retrospective analysis on 33 patients from Campania, a region of Southern Italy, historically followed at 'UOSD Malattie Rare del Globulo Rosso' of Cardarelli hospital, Naples, Italy. RESULTS: We described 33 patients carrying the Hb Lepore variant: 21 compound heterozygotes with a common thalassaemia allele, six patients with homozygous state for Hb Lepore, five patients with Hb Lepore/Hb S and one patient with Hb Lepore/Hb Neapolis were identified. All individuals carried haplotype I or V. DISCUSSION: These thalassaemic patients showed different phenotypes ranging from severe disease with early blood transfusion dependency to moderate form of thalassaemia intermedia. In most cases, thalassaemia mutation type determined the severity of the disease. CONCLUSION: A great variability of clinical phenotype among the same genotypes was also observed suggesting the presence of unknown genetic modifiers acting in combination with Hb Lepore.


Assuntos
Hemoglobinopatias/sangue , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/metabolismo , Adolescente , Adulto , Alelos , Biomarcadores , Transfusão de Sangue , Criança , Pré-Escolar , Feminino , Variação Genética , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/terapia , Heterozigoto , Homozigoto , Humanos , Lactente , Itália , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Estudos Retrospectivos , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA