Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 45
Filter
1.
Orphanet J Rare Dis ; 18(1): 252, 2023 08 29.
Article in English | MEDLINE | ID: mdl-37644448

ABSTRACT

BACKGROUND: ß-thalassaemia major poses a substantial economic burden, especially in adults. We aimed to estimate the economic burden of adult patients with ß-thalassaemia major from a societal perspective using the real-world data. According to the clinical guideline, we also estimated the annual medical costs for patients with the same body weight and calculated the lifetime medical costs over 50 years in mainland China. METHODS: This was a retrospective cross-sectional study. An online survey with snowball sampling covering seven provinces was conducted. We extracted patient demographics, caregiver demographics, disease and therapy information, caring burden, and costs for adult patients diagnosed with ß-thalassaemia major and their primary caregivers. In the real world, we estimated the annual direct medical cost, direct nonmedical cost, and indirect cost. In addition, we calculated the annual direct medical cost and lifetime direct medical cost by weight with discounted and undiscounted rates according to the clinical guideline. RESULTS: Direct medical costs was the main driver of total cost, with blood transfusion and iron chelation therapy as the most expensive components of direct medical cost. In addition, adult patients with ß-thalassaemia major weighing 56 kg were associated with an increase of $2,764 in the annual direct medical cost using the real-world data. The undiscounted and discounted (5% discount rate) total lifetime treatment costs were $518,871 and $163,441, respectively. CONCLUSIONS: Patients with ß-thalassaemia major often encounter a substantial economic burden in mainland China. Efforts must be made to help policymakers develop effective strategies to reduce the burden and pevalence of thalassaemia.


Subject(s)
beta-Thalassemia , Humans , Adult , beta-Thalassemia/epidemiology , beta-Thalassemia/therapy , Cross-Sectional Studies , Financial Stress , Retrospective Studies , China
2.
Eur Heart J Cardiovasc Imaging ; 24(9): 1222-1230, 2023 08 23.
Article in English | MEDLINE | ID: mdl-37070652

ABSTRACT

AIMS: We measured myocardial T2 values by a segmental approach in thalassaemia major (TM) patients, comparing such values against T2* values for the detection of myocardial iron overload (MIO), evaluating their potential in detecting subclinical inflammation, and correlating with clinical status. METHODS AND RESULTS: One-hundred and sixty-six patients (102 females, 38.29 ± 11.49years) enrolled in the Extension-Myocardial Iron Overload in Thalassemia Network underwent magnetic resonance imaging for the assessment of hepatic, pancreatic, and cardiac iron overload (T2* technique), of biventricular function (cine images), and of replacement myocardial fibrosis [late gadolinium enhancement (LGE)]. T2 and T2* values were quantified in all 16 myocardial segments, and the global value was the mean of all segments. Global heart T2 values were significantly higher in TM than in a cohort of 80 healthy subjects. T2 and T2* values were significantly correlated. Out of the 25 patients with a decreased global heart T2* value, 11 (44.0%) had reduced T2 values. No patient with a normal T2* value had a decreased T2 value.Eleven (6.6%) patients had a decreased global heart T2 value, 74 (44.6%) a normal global heart T2 value, and 81 (48.8%) an increased global heart T2 value. Biventricular function was comparable amongst the three groups, whilst LGE was significantly more frequent in patients with reduced vs. increased global heart T2 value. Compared with the other two groups, patients with reduced T2 values had significantly higher hepatic and pancreatic iron deposition. CONCLUSION: In TM, T2 mapping does not offer any advantage in terms of sensitivity for MIO assessment but detects subclinical myocardial inflammation.


Subject(s)
Iron Overload , beta-Thalassemia , Female , Humans , Iron , beta-Thalassemia/diagnostic imaging , Contrast Media , Gadolinium , Myocardium , Iron Overload/diagnostic imaging , Magnetic Resonance Imaging/methods , Inflammation/diagnostic imaging
3.
Br J Haematol ; 201(3): 547-551, 2023 05.
Article in English | MEDLINE | ID: mdl-36535905

ABSTRACT

To track post-transfusion changes on the erythropoietin (EPO)-erythroferrone (ERFE)-hepcidin axis, we collected blood samples from 82 regularly transfused patients with ß-thalassaemia major (ß-TM) immediately before and 4-6 days after transfusion. The post-transfusion haemoglobin, hepcidin, and ferritin levels were increased, while the EPO, ERFE, and soluble transferrin receptor were suppressed. In addition, hepcidin change was inversely associated with erythropoietic change, which was confirmed by an increase in the hepcidin-to-ERFE ratio after transfusion. Age was the main predictor of serum ERFE, followed by EPO, transfusion frequencies, and ferritin. We found ERFE to be a highly sensitive indicator of erythroid activity in ß-TM and that the hepcidin-to-ERFE ratio after transfusion may be used as an appropriateness index of serum hepcidin regulation relative to the degree of erythropoiesis.


Subject(s)
Erythropoietin , Thalassemia , beta-Thalassemia , Humans , Hepcidins , Iron/metabolism , Cohort Studies , Thalassemia/therapy , Ferritins , Epoetin Alfa , beta-Thalassemia/therapy , Erythropoiesis
4.
J Bone Miner Metab ; 41(1): 95-104, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36422676

ABSTRACT

INTRODUCTION: To the best of our knowledge, the present study is the first in the literature to assess distal femoral cartilage thickness and its relationship with ferritin levels in adult patients with beta thalassaemia major (BTM). MATERIALS AND METHODS: 45 patients with BTM and 45 healthy controls were included in the study. Ferritin and haemoglobin levels of the patient and healthy groups were determined by blood analysis and distal femoral cartilage thicknesses were measured via ultrasound. Then, the patient group was divided into subgroups according to whether their ferritin levels were below or above 2500 µg/L. They were then compared among themselves and with the healthy control group using the available data. RESULTS: Distal femoral cartilage thickness values were statistically significantly lower in the BTM group compared to the healthy control group (p values < 0.001). Patients with a ferritin level below 2500 µg/L had statistically significantly higher right and left average distal femoral cartilage thickness values than the patients with a ferritin level above 2500 µg/L (p = 0.029 and p = 0.019, respectively). The right and left average distal femoral cartilage thickness values of the patient subgroup with low ferritin levels were statistically similar to the control group (p = 0.146 and p = 0.164, respectively). CONCLUSION: Our study showed that thalassaemia patients are more likely to develop osteoarthritis (OA) than the normal population and possible OA development can be prevented by keeping the ferritin levels of these patients in the optimum range.


Subject(s)
Cartilage, Articular , Femur , Ferritins , Osteoarthritis , beta-Thalassemia , Adult , Humans , beta-Thalassemia/blood , beta-Thalassemia/diagnostic imaging , Cartilage, Articular/diagnostic imaging , Femur/diagnostic imaging , Ferritins/blood , Osteoarthritis/blood , Osteoarthritis/diagnostic imaging , Ultrasonography
5.
Article in English | WPRIM (Western Pacific) | ID: wpr-998041

ABSTRACT

@#A patient presents with jaundice three weeks into commencement of anti-tuberculosis therapy (ATT). Tuberculosis drug-induced liver injury (TB-DILI) is a main concern in patients commencing ATT. Studies have reported various risk factors associated with TB-DILI, urging vigilance in monitoring liver enzymes in these patients. We aim to review the causes of jaundice in a patient with transfusion dependent thalassaemia commenced on ATT and highlight the risk factors associated with TB-DILI.

6.
Front Biosci (Elite Ed) ; 14(3): 18, 2022 07 12.
Article in English | MEDLINE | ID: mdl-36137990

ABSTRACT

Beta thalassaemia major (TM), a potentially fatal haemoglobinopathy, has transformed from a fatal to a chronic disease in the last 30 years following the introduction of effective, personalised iron chelation protocols, in particular the use of oral deferiprone, which is most effective in the removal of excess iron from the heart. This transition in TM has been achieved by the accessibility to combination therapy with the other chelating drugs deferoxamine and deferasirox but also therapeutic advances in the treatment of related co-morbidities. The transition and design of effective personalised chelation protocols was facilitated by the development of new non-invasive diagnostic techniques for monitoring iron removal such as MRI T2*. Despite this progress, the transition in TM is mainly observed in developed countries, but not globally. Similarly, potential cures of TM with haemopoietic stem cell transplantation and gene therapy are available to selected TM patients but potentially carry high risk of toxicity. A global strategy is required for the transition efforts to become available for all TM patients worldwide. The same strategy could also benefit many other categories of transfusional iron loaded patients including other thalassaemias, sickle cell anaemia, myelodysplasia and leukaemia patients.


Subject(s)
Iron Chelating Agents , Thalassemia , Benzoates/adverse effects , Deferasirox , Deferiprone/therapeutic use , Deferoxamine/adverse effects , Humans , Iron , Iron Chelating Agents/adverse effects , Iron Chelating Agents/therapeutic use , Pyridones/adverse effects , Risk Assessment , Thalassemia/chemically induced , Thalassemia/drug therapy , Triazoles/adverse effects , Triazoles/therapeutic use
7.
Hematology ; 27(1): 310-317, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35220923

ABSTRACT

BACKGROUND: Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is currently the only curative treatment for thalassaemia major (TM). Cord blood (CB) from a sibling has different characteristics from marrow and has potential advantages and disadvantages as a stem cell source. METHODS: We retrospectively analyzed 68 children with beta-thalassaemia major (ß-TM) who underwent fresh cord blood transplantation (F-CBT) from an HLA-matched sibling donor (MSD) between June 2010 and July 2018 in the Department of Pediatrics, Nanfang Hospital and Haematology-Oncology, Shenzhen Children's Hospital. RESULTS: The median infused doses of total nucleated cells (TNCs) and CD34 + cells were 8.51×107/kg and 3.16×105/kg, respectively. The median time to neutrophil and platelet engraftment were, respectively, 27 and 31 days. The cumulative probabilities of acute and chronic graft-versus-host disease (GVHD) were very low after F-CBT (7.8% and 0.0%, respectively). Of the 68 paediatric patients, 67 patients survived during a median follow-up period of 61 months. The estimated 5-year probability of overall survival (OS) and disease-free survival (DFS) were 98.5% and 87.9%, respectively. Three patients experienced graft rejection (GR) (4.5%), and we identified CD34 + cell dose as a significant risk factor for graft failure (p = 0.036) in stratify analysis. CONCLUSIONS: The above results indicate that patients with ß-TM have excellent outcomes after F-CBT from an HLA-MSD.


Subject(s)
Cord Blood Stem Cell Transplantation/methods , beta-Thalassemia/therapy , Child , Child, Preschool , Disease-Free Survival , Female , Humans , Infant , Male , Retrospective Studies , Siblings , Tissue Donors
8.
Int J Cardiol Heart Vasc ; 38: 100947, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35024432

ABSTRACT

BACKGROUND: We hypothesize that cardiac magnetic resonance (CMR) native T1 is associated with myocardial deformation in thalassaemia patients. The present study aimed to compare CMR native T1 values to conventional T2* values in patients with beta-thalassaemia and to explore relationships between these CMR parameters of myocardial iron overload and left ventricular (LV) and left atrial (LA) myocardial deformation. METHODS: Thirty-four (16 males) patients aged 35.5 ± 9.2 years were studied. Myocardial T2* and T1 mapping were performed to assess the cardiac iron overload, while two-dimensional speckle-tracking echocardiography was performed in determine LV and LA myocardial deformation. RESULTS: T2* was 36.4 ± 8.7 ms with 3 patients having myocardial iron load (T2*<20 ms). The native T1 was 947.1 ± 84.8 ms, which was significantly lower than the reported normal values in the literature. There was a significant correlation between T1 and T2* values (r = 0.68, p < 0.001). There were no significant correlations between T1 and T2* values and conventional and tissue Doppler parameters of left ventricular systolic and diastolic function. On the other hand, T1, but not T2*, values were found to correlate negatively with maximum LA area indexed by body surface area (r = -0.34, p = 0.047) and positively with LA strain rate at atrial contraction (r = 0.36, p = 0.04). There were no associations between either of these CMR parameters with indices of ventricular deformation. CONCLUSIONS: In patients with beta-thalassaemia major, native T1 values are decreased, associated with T2* values, and correlated with maximum LA area and LA strain rate at atrial contraction.

9.
J Cardiovasc Magn Reson ; 23(1): 70, 2021 06 14.
Article in English | MEDLINE | ID: mdl-34120634

ABSTRACT

BACKGROUND: We compared cardiovascular magnetic resonance segmental native T1 against T2* values for the detection of myocardial iron overload (MIO) in thalassaemia major and we evaluated the clinical correlates of native T1 measurements. METHODS: We considered 146 patients (87 females, 38.7 ± 11.1 years) consecutively enrolled in the Extension-Myocardial Iron Overload in Thalassaemia Network. T1 and T2* values were obtained in the 16 left ventricular (LV) segments. LV function parameters were quantified by cine images. Post-contrast late gadolinium enhancement (LGE) and T1 images were acquired. RESULTS: 64.1% of segments had normal T2* and T1 values while 10.1% had pathologic T2* and T1 values. In 526 (23.0%) segments, there was a pathologic T1 and a normal T2* value while 65 (2.8%) segments had a pathologic T2* value but a normal T1 and an extracellular volume (ECV) ≥ 25% was detected in 16 of 19 segments where ECV was quantified. Global native T1 was independent from gender or LV function but decreased with increasing age. Patients with replacement myocardial fibrosis had significantly lower native global T1. Patients with cardiac complications had significantly lower native global T1. CONCLUSIONS: The combined use of both segmental native T1 and T2* values could improve the sensitivity for detecting MIO. Native T1 is associated with cardiac complications in thalassaemia major.


Subject(s)
Contrast Media , Iron Overload , Female , Gadolinium , Humans , Iron Overload/diagnostic imaging , Iron Overload/etiology , Magnetic Resonance Imaging, Cine , Magnetic Resonance Spectroscopy , Myocardium , Predictive Value of Tests , Ventricular Function, Left
10.
Nurs Open ; 8(5): 2587-2594, 2021 09.
Article in English | MEDLINE | ID: mdl-33619878

ABSTRACT

AIM: To explore the concept of assertiveness in the patients with thalassaemia major. DESIGN: It was a qualitative study with a conventional content analysis design. METHOD: Data were collected using a semi-structured interview. The research sample included 16 patients with thalassaemia major who were selected using purposeful sampling method from among such patients at educational and therapeutic centres. Then, they were analysed using MAXQDA10 software. RESULTS: During the analysis of data for the concept of assertiveness, three sub-concepts of "courage to self-presentation," "demonstrating the abilities" and "attendance in groups" were developed.


Subject(s)
Assertiveness , beta-Thalassemia , Humans , Qualitative Research , beta-Thalassemia/therapy
11.
Sultan Qaboos Univ Med J ; 20(3): e362-e367, 2020 Aug.
Article in English | MEDLINE | ID: mdl-33110654

ABSTRACT

ß-thalassaemia major is an autosomal recessive form of haemoglobinopathy that is characterised by complete lack of production of the ß-chains resulting in multiple complications that include severe anaemia, failure to thrive and skeletal abnormalities. Facial deformities induced by ß-thalassaemia major are rare and are very challenging to treat from a surgical point of view. We report a 33-year-old female patient with ß-thalassaemia major who presented to the Dental & Maxillofacial Surgery Department, Sultan Qaboos University Hospital, Muscat, Oman, in 2017 with gross dentofacial skeletal deformity contributing to her psychosocial issues. The facial deformity was corrected surgically by excision of the enlarged maxilla, modified Le Fort I osteotomy and advancement genioplasty. This case highlights the pre-operative preparation, surgical management, encountered complications and treatment outcome within 24 months of follow-up.


Subject(s)
Dentofacial Deformities/surgery , Osteotomy, Le Fort/methods , beta-Thalassemia/complications , Adult , Dentofacial Deformities/physiopathology , Female , Genioplasty/standards , Humans , Oman , Osteotomy, Le Fort/standards , beta-Thalassemia/surgery
12.
Health Qual Life Outcomes ; 18(1): 180, 2020 Jun 12.
Article in English | MEDLINE | ID: mdl-32532297

ABSTRACT

BACKGROUND: Beta Thalassaemia Major (ßTM) is a chronic genetic illness whereby the challenges faced by patients exposes them to increased risk of psychosocial issues. Despite this, a disease-specific tool to measure the impact of this illness on adult patients has yet to be developed. METHODS: In collaboration with ßTM adult patients, this study aimed to develop a comprehensive, disease-specific, easy to use psychometrically sound tool to measure the impact of chelation and transfusion dependent ßTM in a cross-cultural patient group in England.The Thalassaemia Life Index (ThALI) was developed in two stages - item generation and pre-testing and item reduction - in collaboration with service users. Recruited adult patients shaped the design of the instrument including its statements and subscales. Standard item reduction techniques were used to develop the instrument. RESULTS: The final version of the ThALI encompasses 35 statements and five sub-scales - general physical health, coping, body image, appearance and confidence, social relationships and autonomy. This endorses the multidimensionality of quality of life (QoL). The factor structure of the ThALI is highly stable and its internal consistency is high (alpha = 0.87 for the overall scale; 0.83-0.94 for its subscales). The ThALI has sound scaling assumptions, acceptability and score variability. Content validity was confirmed by experts and service user interviewees. The loadings for the items retained were adequate and the item discriminant validity sound. CONCLUSIONS: The ThALI covers the impact of ßTM in adult patients. Preliminary testing shows its multidimensionality to be reliable and valid. The national authentication of the tool with patients treated in Centres of Excellence will aim to provide further evidence regarding the ThALI's psychometric properties. Once authenticated, the ThALI may be utilised in research and in clinical settings to assess the effects of new therapies and/or interventions from the patients' perspective to inform practice and/or to identify areas of concern.


Subject(s)
Quality of Life , Surveys and Questionnaires/standards , beta-Thalassemia/psychology , Adult , England , Female , Humans , Male , Middle Aged , Psychometrics/instrumentation , Reproducibility of Results
13.
J Obstet Gynaecol ; 40(7): 902-911, 2020 Oct.
Article in English | MEDLINE | ID: mdl-31999213

ABSTRACT

ß-thalassaemia major (BTM) has a high prevalence worldwide and is associated with considerable morbidity and mortality. The aim of this review is to provide an illustrative overview of the reproductive health and pregnancy related issues in females with ß-thalassaemia. A literature search was performed in four international databases (1980-2018) to identify the potentially relevant articles. Common reproductive health disorders are hypo-gonadotrophic hypogonadism, infertility, delayed or absent sexual development, diabetes, hypothyroidism, hypoparathyroidism, osteopenia, preeclampsia, gestational hypertension, polyhydramnios, oligohydramnios, thrombosis, renal failure, peripheral vascular resistance, placenta previa, pleural effusion and pulmonary hypertension. Many of those aspects are related to iron overload and to ineffective erythropoiesis. Foetal complications include neural tube defects, abnormalities in different organs, spontaneous abortion, foetal loss, preterm birth, foetal growth restriction and low birth weight. Antenatal screening and accurate genetic prenatal examinations are effective measures to early diagnosis of thalassaemia and a detailed plan for management of pregnancies in BTM is important for favourable maternal and foetal outcome.


Subject(s)
Pregnancy Complications, Hematologic/physiopathology , Chelating Agents/therapeutic use , Congenital Abnormalities , Female , Genetic Counseling , Humans , Hypogonadism , Infertility, Female , Preconception Care , Pregnancy , Pregnancy Complications, Hematologic/therapy , Pregnancy Outcome , Premature Birth , Puberty , Reproductive Health , beta-Thalassemia/complications , beta-Thalassemia/epidemiology , beta-Thalassemia/therapy
14.
Article in English | WPRIM (Western Pacific) | ID: wpr-876827

ABSTRACT

@#Blood safety is a major global issue. Transfusion transmitted parasitic infections (TTPI) like malaria are rare and possibly under-reported, a situation which could be attributed to lack of awareness of the mosquito-borne transmission of infection. Such infections are still considered potential health hazards, as they can pose a significant threat especially in immunocompromised patients, where they have proven to be fatal. Prevention of the transmission depends solely on the donor’s questionnaire which addresses previous or current infection with aetiologic agents. Donor deferral is effective however clear guidelines are needed. This case report features the transfusion-transmitted of Plasmodium Falciparum in a 15-year-old splenectomised patient with underlying beta thalassaemia major.

15.
Health Qual Life Outcomes ; 17(1): 137, 2019 Aug 08.
Article in English | MEDLINE | ID: mdl-31395066

ABSTRACT

BACKGROUND: Thalassaemia is a chronic disease without an effective cure in a majority. The clinical management has improved considerably during recent years; however, minimal attempts are made to up lift the quality of life among patients, especially in developing countries. Here we aim to describe and compare and to determine factors associated with health related quality of life among patients with transfusion dependent ß-thalassaemia major and haemoglobin E ß-thalassemia in Sri Lanka. METHODS: A case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent ß-thalassaemia (ß-thalassaemia major and haemoglobin E ß-thalassaemia) aged 5-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Socio-demographic and clinical data were collected using an interviewer-administered questionnaire and health related quality of life was measured using the validated Paediatric Quality of Life Inventory Version 4.0. RESULTS: Two hundred and seventy one patients with transfusion dependent ß-thalassaemia (male-49.1%; mean age- 10.9 ± 3.6 years) and 254 controls (male-47.2%; mean age- 10.4 ± 3.5 years) were recruited. Mean health-related quality of life scores were significantly lower in patients compared to controls (72.9 vs. 91.5, p < 0.001). Of the patients, 224 (84%) had ß-thalassaemia major and 43 (16%) had haemoglobin E ß-thalassaemia. Quality of life scores in psychological health (p < 0.05), emotional functioning (p < 0.05) and social functioning (p < 0.05) were significantly lower in patients with haemoglobin E ß-thalassaemia compared to ß-thalassaemia major. Splenectomy (p < 0.05), short stature (p < 0.05), under nutrition (p < 0.05) and longer hospital stays (p < 0.05) were significantly associated with lower quality of life scores. CONCLUSIONS: Despite improvements in management, the quality of life among patients with ß-thalassaemia still remains low. This is more pronounced in the subset of patients with haemoglobin E ß-thalassaemia. Splenectomy, short stature, undernutrition and longer hospital stays were significantly associated with poor quality of life. It is timely, even in developing countries, to direct emphasis and to take appropriate steps to improve standards of living and quality of life of patients with ß-thalassaemia.


Subject(s)
Quality of Life , beta-Thalassemia/psychology , Adolescent , Case-Control Studies , Child , Cohort Studies , Female , Hemoglobin E , Humans , Male , Sri Lanka , Surveys and Questionnaires , beta-Thalassemia/classification , beta-Thalassemia/therapy
16.
Eur J Obstet Gynecol Reprod Biol ; 238: 38-43, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31082742

ABSTRACT

OBJECTIVE: Although spontaneous fertility and successful pregnancies have been reported in well-chelated and transfused women with beta thalassaemia major (BTM), majority of women are subfertile due to hypogonadotropic hypogonadism (HH). Little is known about the effect of iron overload on ovarian follicles and whether ovarian reserve is affected by the disease or treatment status. This study compares the markers of ovarian reserve in women with transfusion-dependent BTM over a period of ten years with healthy women from a control population. STUDY DESIGN: We performed a 10-year mixed (retrospective and prospective) longitudinal study in 17 women with transfusion-dependent BTM from our thalassaemia clinic between July 2007 to June 2017. The results were compared with 52 age-matched healthy women without any medical conditions (control population) attending our fertility clinic. Patient demographics, medical history, menstrual history, hormonal parameters (serum levels of FSH, estradiol, TSH and AMH) and antral follicle count were recorded in all women from both groups. Serum levels of ferritin, cardiac T2*, liver iron concentration, thyroid function (TSH) and liver function test results were also recorded at three different time points. RESULTS: Serum AMH levels, estradiol levels and antral follicle count were significantly lower in women with BTM compared with the control group (p < 0.05 for all). Low AMH levels were noted in both groups of women (with and without HH) with a background of BTM. Serum AMH levels positively correlated with AFC in women with BTM. CONCLUSION: Serum AMH level and AFC were significantly lower in women with transfusion dependent BTM as compared to age-matched healthy controls suggesting a direct impact of the disease activity or iron overload on the ovary.


Subject(s)
Iron Overload/physiopathology , Ovarian Reserve , beta-Thalassemia/blood , Adult , Biomarkers/blood , Blood Transfusion , Case-Control Studies , Female , Humans , Longitudinal Studies , beta-Thalassemia/physiopathology , beta-Thalassemia/therapy
17.
Br J Haematol ; 186(4): 580-591, 2019 08.
Article in English | MEDLINE | ID: mdl-31111483

ABSTRACT

We investigated neural correlates of cognitive function in adults with beta thalassaemia major (ß-TM) compared to healthy controls using scalp-recorded event-related potentials (ERPs). Event-related potential studies in the field of ß-TM are scarce and mostly limited to children. A stop-signal task was used to evaluate indices of attention and response inhibition function, considered to be the hallmark of executive control. Correlations between task performance, ERPs and haemoglobin were also examined. Results showed impaired cognitive performance in ß-TM patients, as indicated by longer response times than controls. Haemoglobin was negatively correlated with response times to Go stimuli. Electrophysiological results indicated significant ß-TM-related alterations in neuronal activity, reflected in greater peak amplitudes of several task-related ERP components. A possible interpretation of these ERP results is that ß-TM patients need to recruit additional brain resources when dealing with cognitive challenge. Significant correlations were found between levels of haemoglobin and amplitude of all ERP components; the lower the haemoglobin, the more pronounced the ERPs amplitude. The present study represents a novel investigation of cognitive function and related brain dynamics in ß-TM in adult. Integrating neuropsychological assessment and interventions into traditional disease management, may be imperative in achieving a better quality of life for these patients.


Subject(s)
Attention , Brain/physiopathology , Cognition , Cognitive Dysfunction/etiology , Cognitive Dysfunction/psychology , Evoked Potentials , beta-Thalassemia/complications , Adolescent , Adult , Case-Control Studies , Cognitive Dysfunction/diagnosis , Electroencephalography , Female , Humans , Male , Middle Aged , Neuropsychological Tests , Young Adult , beta-Thalassemia/diagnosis
18.
Br J Haematol ; 183(5): 783-795, 2018 12.
Article in English | MEDLINE | ID: mdl-30334574

ABSTRACT

We prospectively assessed the efficacy of deferasirox versus deferiprone or desferrioxamine as monotherapy in thalassaemia major (TM) patients by magnetic resonance imaging (MRI). We selected the patients enrolled in the Myocardial Iron Overload in Thalassaemia network who received only one chelator between two MRIs (deferasirox = 235, deferiprone = 142, desferrioxamine = 162). Iron overload was measured by T2* technique and biventricular function by cine images. Among the patients with baseline myocardial iron, in all three groups there was a significant improvement in global heart T2* values. The deferiprone and desferrioxamine groups showed a significant improvement in left ventricular ejection fraction (LVEF). Only the deferiprone group showed a significant improvement in right ventricular ejection fraction (RVEF). The improvement in global heart T2* was significantly lower in the deferasirox versus the deferiprone group. The improvement in the LVEF was significantly higher in the deferiprone and desferrioxamine groups than in the deferasirox group and the improvement in the RVEF was significantly higher in the deferiprone than in deferasirox group. Among the patients with baseline hepatic iron, the changes in hepatic iron were comparable in deferasirox versus the other groups. Deferasirox monotherapy was less effective than deferiprone in improving myocardial siderosis and biventricular function and less effective than desferrioxamine in improving the LVEF.


Subject(s)
Deferasirox/therapeutic use , Deferiprone/therapeutic use , Deferoxamine/therapeutic use , Iron Chelating Agents/therapeutic use , beta-Thalassemia/drug therapy , Adult , Cardiomyopathies/complications , Cardiomyopathies/drug therapy , Drug Substitution , Drug Therapy, Combination , Female , Humans , Iron Overload/complications , Iron Overload/drug therapy , Magnetic Resonance Imaging , Male , Prospective Studies , Treatment Outcome , beta-Thalassemia/complications
19.
Growth Factors ; 36(3-4): 178-185, 2018 08.
Article in English | MEDLINE | ID: mdl-30375242

ABSTRACT

Bone disorders and disturbed calcium (Ca) homeostasis are common disorders in ß-thalassaemia major (ß-TM). In the present study, two bone related markers are studied in ß-TM patients with negative C-reactive protein for the first time; fibroblast growth factor receptor 2 (FGFR2) and CAPS protein. Another goal is to estimate the correlation between the recent parameters and bone biomaterials as a function of iron status parameters in ß-TM patients. The results revealed that, in patients with ß-TM serum FGFR2, CAPS, alkaline phosphatase (ALP) and Mg significantly increased while serum Ca levels were low as compared with controls. Ca status is correlated with iron overload in ß-TM. A significant correlation was present between CAPS and FGFR2. In conclusion, FGFR2 and CAPS associated with Ca status and subsequent bone disturbances in ß-TM patients. Their level can be predicted from the equation: CAPS =0.001ALP +0.48FGFR2-1.26Ca - 3.95Pi +12.76 with acceptable applicability.


Subject(s)
Calcium-Binding Proteins/blood , Calcium/blood , Iron Overload/blood , Receptor, Fibroblast Growth Factor, Type 2/blood , beta-Thalassemia/blood , Alkaline Phosphatase/blood , Bone and Bones/metabolism , C-Reactive Protein/analysis , Child , Child, Preschool , Humans , Iron/blood , Magnesium/blood , Male , beta-Thalassemia/pathology
20.
Indian J Med Microbiol ; 36(2): 224-229, 2018.
Article in English | MEDLINE | ID: mdl-30084415

ABSTRACT

Context: Patients with thalassaemia are at risk of infections such as hepatitis C virus (HCV) due to their repeated blood transfusions; meanwhile, the treatment of thalassaemia patients who had developed HCV infection is a controversial issue. Aims: Although the effectiveness of direct-acting antivirals on HCV infection has been confirmed, their side-effects as well as effects on haematological factors due to the resultant need for blood transfusion remain to be further understood. Materials and Methods: In this study, 61 patients with major beta thalassaemia and HCV infection, and who had a history of interferon treatment failure were examined. The patients underwent a 24-week treatment with sofosbuvir (SOF) and daclatasvir (DAC). Sustained virological response 12 was used to assess response to treatment. At the end of the study, the need for blood transfusion and serum ferritin was evaluated. Results: About 98.4% of the patients responded to the treatment, and only one patient with genotype 1b did not respond positively. No significant complications necessitating treatment cessation were observed, and all the patients tolerated the treatment well. The level of liver enzymes showed a significant reduction 12 weeks after the treatment. The need for blood transfusions in patients before treatment was averagely 1.595 ± 0.65 bag per month, in which 1.593 ± 0.64 bags were received after treatment (P = 0.9). This regimen did not affect the amount of anaemia in patients and did not differentiate the need for blood transfusions. The rate of haemoglobin before treatment was 9.5 ± 1.42 g/dl, which reached 9.6 ± 1.6 g/dl after treatment (P = 0.54). Ferritin levels decreased significantly (from 1948.08 ± 1539.54 to 1315.73 ± 1207.67 ng/ml) (P = 0.001) in the patients after the treatment. Conclusion: Combination of SOF and DAC is an effective and tolerable treatment regimen without affect on the amount of anaemia in patients and did not differentiate the need for blood transfusions.


Subject(s)
Antiviral Agents/therapeutic use , Hepatitis C/drug therapy , Imidazoles/therapeutic use , Sofosbuvir/therapeutic use , beta-Thalassemia/virology , Adolescent , Adult , Carbamates , Drug Therapy, Combination , Female , Genotype , Humans , Male , Prospective Studies , Pyrrolidines , Treatment Outcome , Valine/analogs & derivatives , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...