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Thalassaemia Major (thalassaemia + major)
Terms modified by Thalassaemia Major Selected AbstractsReduced insulin secretion in normoglycaemic patients with ,-thalassaemia majorDIABETIC MEDICINE, Issue 12 2006N. G. Angelopoulos Abstract Aims To assess insulin sensitivity and secretion in the fasting state in regularly transfused patients with ,-thalassaemia major with normal glucose response during an oral glucose tolerance test and to estimate its possible relation to iron overload. Methods We measured fasting glucose, insulin and C-peptide levels in 24 patients with ,-thalassaemia major and 18 control subjects matched for age and body mass index. Insulin sensitivity and insulin release index were calculated according to the homeostasis model assessment (HOMA). Correlations with age, body mass index and serum ferritin were also calculated. Results Fasting glucose levels in patients were increased compared with control subjects (5.5 ± 0.12 vs. 4.7 ± 0.13 mmol/l, mean ± sem, P < 0.001). Pancreatic B-cell insulin secretion in the fasting state (estimated by SCHOMA) was lower in thalassaemic patients (SCHOMA 88.5 ± 11.11 vs. 184.3 ± 23.72 in control subjects, P < 0.001). Patients were then divided into those with impaired (IFG) and normal (NFG) fasting glucose. SCHOMA was higher in the patients with NFG compared with those with IFG patients (110.6 ± 17.63 vs. 66.3 ± 10.88, respectively, P < 0.05) but estimated insulin sensitivity (ISIHOMA) was similar. Plasma values of C-peptide correlated positively with ferritin (r = 0.42, P = 0.04) and SCHOMA (r = 0.45, P = 0.02) and negatively with ISIHOMA (r = ,0.43, P = 0.03). Conclusions These results support the concept that impaired B-cell function, as reflected by a reduction in the insulin secretion index, is present in ,-thalassaemic patients with normoglycaemia before changes in oral glucose tolerance tests are apparent. [source] Correlation of echocardiography parameters with cardiac magnetic resonance imaging in transfusion-dependent thalassaemia majorEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2007Athanassios Aessopos Abstract Background and objective:,Heart iron load (cardiac Fe) can be indirectly quantified by cardiac magnetic resonance (CMR) T2*. CMR accessibility is limited, whereas echocardiography (Echo) is relatively inexpensive and readily available. The objective was to find Echo parameters that may be useful for predicting cardiac Fe. Design and methods:,We compared a number of parameters derived from Echo to cardiac Fe in 142 thalassaemia major patients who had undergone a CMR study. Results:,All patients with decreased left ventricular (LV) function had cardiac Fe. After removing those patients from the analysis, the total diameter index (Tdi) >5.57 cms/m2, left atrial diameter index >2.41 cm/m2, and the diastolic parameter E/A > 1.96 were highly specific (91.4%, 97.1% and 96.9% respectively) but had low sensitivity (31.8%, 20.45% and 21.8%) in predicting iron load. A right ventricular index >1.47 cm/m2, LV systolic index >2.26 cm/m2 or Tdi >6.26 cm/m2 discriminated between patients with no, or mild to moderate cardiac Fe from those with heavy load, with specificity of 91%, 98.5%, and 98.5%, respectively, but with low sensitivity. Interpretation and conclusions:,Echo parameters for cardiac Fe prediction have restricted value, whereas CMR is essential to assess cardiac Fe. However, patients with decreased LV systolic function should be considered a priori as having cardiac Fe, and chelation therapy should be intensified. This also applies to patients who have the above-described Echo criterion values, even if CMR is not available. Once a patient is found by CMR to have cardiac Fe, then the above Echo criterion values may be useful for ongoing monitoring. [source] Biochemical markers of bone turnover and bone mineral density in patients with ,-thalassaemia majorINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2005E. Eren Summary In this study, bone formation markers (bone-specific alkaline phosphatase and osteocalcin) and bone resorption markers (pyridinoline and deoxypyridinoline) were analysed. Bone formation, as evidenced by the levels of serum alkaline phosphatase and osteocalcin, did not appear to be impaired, while bone resorption was grossly increased in all patient groups. The decrease of bone mineral density values was more prominent in the lumbar spine, thus making this site particularly interesting for such studies. The patients had significantly lower femoral neck and lumbar spine bone mineral density when compared with control (all p < 0.001). Our conclusion is that, in spite of the severe bone destruction that occurs in thalassaemia major, the fact that bone formation remains intact calls for a more intensive treatment. [source] Dental arch morphological and dimensional characteristics in Jordanian children and young adults with ,-thalassaemia majorINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 2 2005A. AL-WAHADNI Summary. Objective. , The aim of this study was to examine the arch dimensions of Jordanian patients with ,-thalassaemia major in comparison with an unaffected control group. Methods. , The sample consisted of 24 patients who suffered from ,-thalassaemia major (mean age = 13·9 ± 3·1 years) and an unaffected control group (mean age = 13·5 ± 2·9 years) matched for dental age, sex, and incisor and molar relationships. The unaffected control group was randomly selected from four public schools in the Governate of Irbid-Jordan. Alginate impressions were taken of the maxillary and mandibular dental arches of all participants. All measurements of the arch dimensions were made on the casts using an electronic digital sliding calliper. Results. , In the mandibular arch, when compared with the patients with thalassaemia, the unaffected control group subjects showed a (statistically) significantly larger incisor width, larger arch depth, and larger left and right anterior arch lengths (1·18, 2·58, and 1·85 and 1·12 mm, respectively). In the maxillary arch, there was a statistically significant difference in the mean incisor width (± 2·16 mm), arch depth (± 3·14 mm), inter-molar width (± 1·21 mm) and in the left anterior arch length (± 1·97 mm). The canine widths, premolar widths, left and right posterior arch length, and curve of Spee of both arches showed no statistically significant differences between the two groups. Conclusion. , When compared to unaffected subjects, patients with ,-thalassaemia major exhibited: a narrower maxilla; a shorter maxilla and mandible; and smaller incisor widths for the maxillary and mandibular arches. [source] ,-thalassaemia carrier detection by ELISA: A simple screening strategy for developing countriesJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 1 2005M. Shyla Ravindran Abstract The frequency of ,-thalassaemia in India ranges from 3.5% to 15% in the general population and of the 100,000 children born with thalassaemia major in the world, 10,000 are in India alone. Affected children do not die immediately, but treatment by regular transfusion is costly and leads to iron overload and death. Therefore, health services in lower-economic countries can sustain patients only if the numbers can be limited. Detecting carrier couples by simple blood test can prevent thalassaemia and at-risk couples can be identified and informed of their genetic risk before having children. A prevention programme including population screening, counselling, and prenatal diagnosis will markedly reduce the birth prevalence of affected individuals. Hemoglobin A2 (HbA2) measurement in human hemolysates has great significance, since its level can indicate ,-thalassaemia carrier status in otherwise healthy individuals. We have developed a rapid, simple, and inexpensive enzyme linked immunosorbent assay (ELISA) for the quantitation of HbA2, which can be used in carrier screening programmes in developing countries like India. In a limited trial for ,-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r=0.89). J. Clin. Lab. Anal. 19:22,25, 2005. © 2005 Wiley-Liss, Inc. [source] Bone marrow transplantation for ,-thalassaemia major by an HLA-mismatched parentJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2002CF Li Abstract: A six-year-old boy was diagnosed with ,-thalassaemia major during infancy. Since then, he required monthly blood transfusion and irregular iron chelation therapy. He had hepatosplenomegaly and elevated liver enzymes; the serum ferritin was up to 3800 ng/mL. An echocardiogram showed left-ventricular enlargement. His one-antigen-mismatched mother was chosen as a bone marrow donor. He was pretreated with intensive red blood cell transfusion and hydroxyurea for 6 weeks prior to conditioning. The conditioning included total body irradiation (300 cGy), busulfan (14 mg/kg), cyclophosphamide (160 mg/kg) and anti-thymocyte globulin (rabbit; 90 mg/kg). Marrow cell dose was 5.4 × 108/kg. Graft versus host disease (GVHD) prophylaxis included cyclosporine A (CSA) and methylprednisolone. Neutrophil engraftment occurred on day 23. Grade II acute GVHD occurred on day 45. The patient developed complications including septicaemia, haemorrhagic cystitis, intracranial haemorrhage and heart failure. He subsequently recovered from the complications without sequelae. The patient remained transfusion-independent at a follow-up examination after 18 months. This case suggested that a mismatched family member may be considered as a bone marrow donor for ,-thalassaemia major. In places where conventional treatment is not feasible, for example, in China, this approach may be an alternative option. A more intensive immunosuppressive regimen and a higher marrow cell dose may be important for successful engraftment. High-dose anti-thymocyte globulin may also prevent severe GVHD. [source] Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of EnglandPRENATAL DIAGNOSIS, Issue 3 2006Shenaz Ahmed Abstract Objectives Most births of children affected with ,-thalassaemia major in the United Kingdom are to parents of Pakistani origin. A popular explanation for this is that Pakistanis decline termination of pregnancy on religious grounds. However, various factors influence people's attitudes towards prenatal diagnosis and termination of pregnancy, which have not been investigated in a UK Pakistani sample. This study is aimed at exploring the attitudes of pregnant Pakistani women towards prenatal diagnosis and termination of pregnancy for ,-thalassaemia major in the North of England. Methods Forty-three pregnant women tested for thalassaemia carrier status were interviewed following receipt of their test results. Interviews were analysed using the grounded theory approach. Results Findings showed: (1) women's awareness of and attitudes towards prenatal diagnosis; (2) the relationship between attitudes towards prenatal diagnosis and termination of an affected foetus; (3) the relationship between attitudes towards termination of pregnancy and religious beliefs, perceptions of severity of the condition, influence of significant others, and (4) the impact of gestational age at the time of the offer of termination of pregnancy. Conclusions Pakistani women's attitudes towards prenatal diagnosis and termination of pregnancy are influenced by various factors, and therefore their religion should not be taken as a proxy for their attitudes either for or against termination of pregnancy. Copyright © 2006 John Wiley & Sons, Ltd. [source] Pseudoxanthoma elasticum-like lesions in association with thalassaemia majorAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 3 2009Shirley Yu ABSTRACT A 33-year-old woman with a background of thalassaemia major presented with a 3-month history of yellowish plaques on the back of her neck bilaterally and alterations in the texture of the skin in both axillae. Examination of these lesions showed yellowish cobblestone plaques and coalescing papules in both axillae. Pseudoxanthoma elasticum (PXE)-like lesions were confirmed histopathologically. PXE-like lesions in association with thalassaemia major are an uncommon occurrence. Due to the increase in the survival rate of thalassaemia major patients on treatment, the development of these lesions is likely to increase. The histopathological manifestation of these lesions mimics that of hereditary PXE and is associated with severe vascular complications. This case highlights the importance of recognising this rare disorder and the role dermatologists have in establishing the diagnosis and advising on appropriate screening for complications. [source] Combined chelation therapy improves glucose metabolism in patients with , -thalassaemia majorBRITISH JOURNAL OF HAEMATOLOGY, Issue 2 2006Athanasios Christoforidis No abstract is available for this article. [source] Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonanceBRITISH JOURNAL OF HAEMATOLOGY, Issue 3 2004Lisa J. Anderson Summary Heart failure from iron overload causes 71% of deaths in thalassaemia major, yet reversal of siderotic cardiomyopathy has been reported. In order to determine the changes in myocardial iron during treatment, we prospectively followed thalassaemia patients commencing intravenous desferrioxamine for iron-induced cardiomyopathy during a 12-month period. Cardiovascular magnetic resonance assessments were performed at baseline, 3, 6 and 12 months of treatment, and included left ventricular (LV) function and myocardial and liver T2*, which is inversely related to iron concentration. One patient died. The six survivors showed progressive improvements in myocardial T2* (5·1 ± 1·9 to 8·1 ± 2·8 ms, P = 0·003), liver iron (9·6 ± 4·3 to 2·1 ± 1·5 mg/g, P = 0·001), LV ejection fraction (52 ± 7·1% to 63 ± 6·4%, P = 0·03), LV volumes (end diastolic volume index 115 ± 17 to 96 ± 3 ml, P = 0·03; end systolic volume index 55 ± 16 to 36 ± 6 ml, P = 0·01) and LV mass index (106 ± 14 to 95 ± 13, P = 0·01). Iron cleared more slowly from myocardium than liver (5·0 ± 3·3% vs. 39 ± 23% per month, P = 0·02). These prospective data confirm that siderotic heart failure is often reversible with intravenous iron chelation with desferrioxamine. Myocardial T2* improves in concert with LV volumes and function during recovery, but iron clearance from the heart is considerably slower than from the liver. [source] Exercise capacity and cardiovascular changes in patients with ,-thalassaemia majorCLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING, Issue 6 2006Filippo Tocco Summary Despite the introduction of deferoxamine, 50% of thalassaemia major patients die before the age of 35 years predominantly from iron induced heart failure. Indeed, the assessment of myocardial performance may be of particular interest since it can reveal an early myocardial dysfunction. By using impedance cardiography and mass spectrometry, we studied the cardiac function and the oxygen extraction ratio (O2ER) of 14 thalassaemic patients and 15 control healthy subjects during an incremental cycle-ergometer test. The achieved mechanical power output and the relative O2 uptake did not reach any significant difference between groups. At the highest workload, O2ER reached significantly higher values in thalassaemic patients versus control subjects while the relationship between cardiac index (CI) and O2ER (CI/O2ER) decreased showing a lower contribution of cardiovascular system to maintain O2 uptake. Results of this study imply that CI/O2ER allows an early diagnosis of the iron induced myocardial dysfunction, whereas it is not clinically patent yet. To our knowledge, this is the first study revealing an O2ER pivotal role as compensatory mechanism to maintain a normal working capacity in subjects suffering from thalassaemia major. [source] Cost-effectiveness of prenatal screening for thalassaemia in Hong KongPRENATAL DIAGNOSIS, Issue 11 2004K. Y. Leung Abstract Objectives To determine the cost effectiveness of a universal prenatal screening program for ,- and ,-thalassaemia. Methods We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. Results 18 936 women were screened at our prenatal clinic and 153 couples were subsequently referred to our Prenatal Diagnostic Centre for counselling and further investigations. In addition, there were 238 tertiary referrals and 157 self-referrals. After investigations, 84 fetuses were at risk of ,-thalassaemia major/,-E thalassaemia, 19 of them were affected and 18 were aborted. The total expenditure on our program (HK$10.0 million) would be less than the postnatal service costs (HK$40.4 million) for 18,-thalassaemia major fetuses if they were born. Of 361 women at risk of carrying a homozygous ,0 -thalassaemia fetus, 311 (86.2%) opted for the indirect approach (using serial ultrasound examinations to exclude Hb Bart's disease), and 76 (24.5%) subsequently underwent an invasive test for a definitive diagnosis. The sensitivity and false positive rate of this indirect approach was 100.0% and 2.9% respectively. Conclusion It is cost effective to run a universal prenatal screening program in an area where both ,-thalassaemia and ,-thalassaemia are prevalent. The indirect approach can effectively avoid an invasive test in unaffected pregnancies. Copyright © 2004 John Wiley & Sons, Ltd. [source] | ||||||||||