MRI monitoring of myocardial iron overload: Use of cardiac MRI combined with hepatic MRI in a cohort of multi-transfused patients with thalassaemia

PurposeWe report the results of combining cardiac and hepatic MRI in the same examination to monitor 48 multi-transfused patients presenting iron overload secondary to their transfusions. This cardiac MRI technique uses acquisition sequences and calculation software that are readily available for 1.5 T systems, and it has been validated to screen for patients at risk of cardiac complications who present myocardial iron overload (T2* < 20 milliseconds).Patients and methodsA total of 176 combined MRI examinations were performed between May 2006 and January 2012 in 48 patients who had received transfusions due to thalassaemia. This monocentric retrospective study brings together all of the imaging examinations carried out.ResultsThere was a positive correlation between the cardiac T2* values and left ventricular ejection fraction, which were measured in the same examination. At the first assessment 23/48 patients had a T2* < 20 ms. These patients showed a significant improvement in cardiac T2* over time while their iron chelation therapy was being intensified.ConclusionThis study validates the application of the cardiac MRI technique used to monitor cardiac iron overload in patients who have undergone multiple transfusions.     

253对拟婚青年地中海贫血筛查研究

采用PAGE Hb肽链分析技术和Hb常规分析技术,对横县253对(506人)拟婚青年进行地中海贫血筛查(本文简称地贫),共检出各类地贫及异常Hb患者74例,占14.62％。拟婚双方或一方患有地贫者占26.87％(68/253),配对分析显示α/α患者相配占1.58％,α/β患者相配占0.79％。与同时期该地儿童地贫标准监测结果对照,经统计学处理无显著差异,认为在婚检时作地贫筛查是可行的和必要的。     

The changing epidemiology of the ageing thalassaemia populations: A position statement of the Thalassaemia International Federation

Therapeutic advances in β-thalassaemia have gradually lead to a significant improvement in prognosis over the past few decades. As a result, patients living in areas where disease-specific programmes offering access to modern therapy are in place experience a new era of prolonged survival that tends to reach that of the normal population. This ageing thalassaemia population, however, faces a new spectrum of comorbidities resulting from increasing age that may jeopardise the advances in prognosis provided by current therapy and thus poses new challenges in diagnosis, monitoring and treatment. In this position paper of the Thalassaemia International Federation, we review the changing epidemiology and clinical spectrum of patients with β-thalassaemia and propose actions to be undertaken in order to address the emerging spectrum of comorbidities resulting from ageing.     

Bone density in the Asian thalassaemic population: a cross-sectional review

As survival improves in β-thalassaemia, osteoporosis is emerging as a significant problem. This study examines bone mineral density (BMD) of thalassaemic patients of Asian origin (age range 9.5-24 y) to evaluate the extent of problems in this group and identify potential risk factors. Eleven patients were scanned using dual-energy X-ray absorptiometry. BMD z -scores and the bone mineral apparent density (BMAD) z -scores were calculated, to correct for short stature. All but three patients had lumbar spine BMD and BMAD z -scores below the mean. Three patients had BMAD z -scores more than 2.5 standard deviations below the mean. A negative correlation between age and BMAD was seen, as was an association between endocrine disorders and decreased bone density.

Conclusion: The data confirm significant reductions in BMD in the Asian thalassaemic population, even after correcting for body size. Further research is needed to identify risk factors and means of prevention.     

Spinal cord compression due to epidural extramedullary haematopoiesis in thalassaemia: MRI

Spinal epidural extramedullary haematopoiesis is very rare in thalassaemia. A 27-year-old man with thalassaemia intermedia presented with symptoms and signs of spinal cord compression. MRI showed a thoracic spinal epidural mass, representing extramedullary haematopoietic tissue, compressing the spinal cord. Following radiotherapy, serial MRI revealed regression of the epidural mass and gradual resolution of spinal cord oedema. Received: 19 August 1996 Accepted: 24 January 1997     

Growth velocity monitoring of the efficacy of different therapeutic protocols in a group of thalassaemic children

Since intensive chelating therapy for thalassaemic children was introduced, growth rates appear to have diminished. To investigate what factors were responsable we compared velocities of growth in length over a period of 1 year between groups distinguished by different strategies of treatment. Forty-two thalassaemic patients, 30 males aged 4–12 years, and 12 females, 4–10 years old, were assigned from their current treatment into subgroups based upon blood ferritin levels, daily dose of deoferrioxamine and urinary zine levels.Conclusion The results confirm that a reduction in desferrioxamine results in greater growth. If blood ferritin is low, the change effect may be greater. Secondly, any zinc deficiency should be treated. The changes in treatment convert a growth velocity of –2 to –3 SDS to a velocity of about –1 SDS.     

Haemoglobinopathy diagnosis: algorithms, lessons and pitfalls

Diagnosis of haemoglobinopathies, including thalassaemias, can result from either a clinical suspicion of a disorder of globin chain synthesis or from follow-up of an abnormality detected during screening. Screening may be carried out as part of a well defined screening programme or be an ad hoc or opportunistic test. Screening may be preoperative, neonatal, antenatal, preconceptual, premarriage or targeted at specific groups perceived to be at risk. Screening in the setting of haemoglobinopathies may be directed at optimising management of a disorder by early diagnosis, permitting informed reproductive choice or preventing a serious disorder by offering termination of pregnancy. Diagnostic methods and algorithms will differ according to the setting. As the primary test, high performance liquid chromatography is increasingly used and haemoglobin electrophoresis less so with isoelectric focussing being largely confined to screening programmes and referral centres, particularly in newborns. Capillary electrophoresis is being increasingly used. All these methods permit only a presumptive diagnosis with definitive diagnosis requiring either DNA analysis or protein analysis, for example by tandem mass spectrometry.     

Abdominal ultrasonographic findings in patients with sickle-cell anaemia and thalassaemia intermedia

Background The high prevalence and heterogeneity of clinical and haematological phenotypes of sickle-cell anaemia and thalassaemia intermedia (TI) syndromes in the Greek population constitute a major challenge in routine medical practice.Purpose To investigate the spectrum and prevalence of abdominal US findings in these patients.Materials and methods The study included 105 patients, 13 homozygous for sickle-cell anaemia (S/S) and 92 with TI syndromes (Th/S, ^thal/^thal or ^thal/^thal). The patients' ages ranged from 1 to 54 years, with 49 males and 56 females.Results At the time of the examination, 41% of the patients had undergone splenectomy and 23.8% had undergone cholecystectomy. The most frequent US findings (percentages refer to all patients) were: hepatomegaly (70.5%), splenomegaly (48.6%) and cholelithiasis (20%). A bright liver was identified in 3.8% and focal hepatic lesions were present in two patients of the TI group. Functional disorders of the gallbladder concerned mainly patients with sickle-cell syndromes. Of those with S/S, 30.8% had a shrunken spleen. An echogenic pancreas was identified in one patient in each group. Increased renal echogenicity was observed in 17.6% of patients with sickle-cell syndromes. One case of polycystic kidney disease was diagnosed and coexisted with S/S.Conclusions The value of US imaging in detecting complications of sickle-cell and TI syndromes is still debated. To our knowledge, there are no previous reports concerning the frequency and spectrum of abdominal US findings in patients with these syndromes.     

Spinal cord compression due to extramedullary haematopoiesis in two patients with thalassaemia: complete regression with blood transfusion therapy

Extramedullary haematopoiesis, a common finding in thalassaemia, is rarely localized in the spinal cord and even more rarely has neurological manifestations. We present two patients suffering from thalassaemia (intermedia and beta homozygous) and paraparesis due to spinal cord compression from intrathoracic extramedullary haematopoietic masses. Diagnosis was based on magnetic resonance imaging findings, and treatment consisted of blood hypertransfusions. The majority of published cases have been successfully treated by radiation and in some cases by blood transfusions. Our two patients completely recovered, and there has been no recurrence during the 4 years since their treatment. Diagnosis and treatment of this rare condition are discussed Received: 23 August 1999 / Received in revised form: 4 May 2000 / Accepted: 7 June 2000