Sobrecarga de ferro em adolescente com xerocitose: a importância da ressonância nuclear magnética / Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging

Relatar um caso de sobrecarga de ferro secundária à xerocitose, uma doença rara, em uma adolescente, diagnosticada por meio de ressonância magnética em T2*. Relatamos o caso de uma paciente sintomática com xerocitose, nível de ferritina de 350ng/mL e sobrecarga de ferro cardíaca significativa. Ela foi diagnosticada por ressonância magnética em T2* e recebeu terapia de quelação. Análise por ectacitometria confirmou o diagnóstico de xerocitose hereditária. Na sequência, a ressonância magnética em T2* demonstrou resolução completa da sobrecarga de ferro em vários órgãos e novo ecocardiograma revelou resolução completa das alterações cardíacas anteriores. A paciente permanece em terapia de quelação. Xerocitose é uma desordem genética autossômica dominante rara, caracterizada por estomatocitose desidratada. O paciente pode apresentar fadiga intensa e sobrecarga de ferro. Sugerimos o uso regular de ressonância magnética em T2* para o diagnóstico e controle da resposta à quelação de ferro em xerocitose e acreditamos que o exame pode ser útil também em outras anemias hemolíticas que necessitam de transfusões.

To report a case of iron overload secondary to xerocytosis, a rare disease in a teenager, diagnosed, by T2* magnetic resonance imaging. We report the case of a symptomatic patient with xerocytosis, a ferritin level of 350ng/mL and a significant cardiac iron overload. She was diagnosed by T2* magnetic resonance imaging and received chelation therapy Ektacytometric analysis confirmed the diagnosis of hereditary xerocytosis. Subsequent T2* magnetic resonance imaging demonstrated complete resolution of the iron overload in various organs, as a new echocardiography revealed a complete resolution of previous cardiac alterations. The patient remains in chelation therapy. Xerocytosis is a rare autosomal dominant genetic disorder characterized by dehydrated stomatocytosis. The patient may present with intense fatigue and iron overload. We suggest the regular use of T2* magnetic resonance imaging for the diagnosis and control of the response to iron chelation in xerocytosis, and we believe it can be used also in other hemolytic anemia requiring transfusions.

Experience with combination therapy of deferiprone and desferrioxamine in beta-thalassemia major patients with iron overload at maternity and children hospital, Al Madinah Al Munawarah, Saudi Arabia

Describe our experience with combination therapy of Deferiprone [DFP] and Desferrioxamine [DFO] in treating beta-Thalassemia Major patients with severe iron overload in Al Madinah Al Munawarah, Saudi Arabia and to determine any adverse events of treatment. Twenty eight patients with beta-Thalassemia major between the ages of 8 - 27 [mean 15.5 +/- 4.6 years SD] were enrolled into a prospective open label one year study from January 1[st] 2006 to December 31[st] 2006, at Al Madinah Maternity and Children's Hospital [Al Madinah Hereditary Blood Diseases Center]. Participants were followed regularly at Al Madinah Hereditary Blood Diseases Center for at least 6 years prior to their enrolment in the study. The inclusion criteria were all patients who are transfusion dependent Thalassemia Major with an age of more than 8 years and serum ferretin levels > 3000 ng/L which were progressively increasing despite receiving chelating therapy with subcutaneous Desferrioxamine for at least 5 years prior to study. The doses used for Deferiprone was 75mg/kg while the dose of Desferrioxamine was 40- 50mg/kg/day. Serum ferretin and other laboratory investigations were monitored every 3 weeks and adverse events of both drugs were assessed regularly along with patients' compliance. There was no significant reduction of serum ferretin from baseline and by the end of the study period and no serious adverse events were observed. Deferiprone is a safe drug, however it did not reduce the serum ferretin from the base line, but it maintained the iron balance despite chronic transfusion in patients with beta-Thalassemia major when used in combination with Desferrioxamine

Role of chelating agents in thalassaemia major patients

The purpose of this work was to evaluate current chelation in thalassaemia major patients. It is a retrospective study. This study was conducted at a charity blood transfusion center in Lahore; from March 2006 to August 2006. One hundred and seventy patients suffering from transfusion dependent thalassaemia major were evaluated for chelation practice and iron overload. Among them 98.2% were found to be either non-chelators or inadequate chelators whereas 82.3% patients had serum ferritin levels above 2500 ng/ml. Growth failure and hepatosplenomegaly were also common. Survival appears to be limited as only 6 patients were older than 20 years. Patients face risks and complications during treatment of thalassaemia major. Urgent and effective measures need be taken to remove the difficulties to improve quality of life in these patients. Involvement of clinical haematologists or physicians in the treatment of thalassaemia major can produce promising results

cross-sectional study of metabolic and endocrine complications in beta-thalassemia major

Iron overload is a major problem in patients with beta-thalassemia major, and it has many structural and metabolic consequences. The aim of this study was evaluation of endocrine distturbances in patients with beta-thalassemia major who were older than 10 years of age. In this cross-sectional study, investigators collected demographic data and medical histories, as well as menstrual history in females, from the medical records of 56 patients with beta-thalassemia major. Patients were examined to determine their pubertal status and the standard deviation score for height for evaluation of short stature. For evaluation of glucose tolerance, a fasting blood glucose and oral glucose tolerance test were performed. Evidence for diabetes mellitus was based on American Diabetes Association and World Health Organization criteria. Serum levels of calcium, phosphorous, thyroid-stimulating hormone, free thyroxin, luteinizing hormone and follicular-stimulating hormone, and estradiol in girls and testosterone in boys were measured. The mean and standard deviation for age in the 56 patients [36 males and 20 females] was 15.62 +/- 4.44 years. Diabetes mellitus was present in 5 patients [8.9%], impaired fasting glucose was found in 16 patients [28.6%] and an impaired glucose tolerance test was found in 4 patients [7.1%]. Short stature [standard deviation score <-2] was seen in 25 [70%] boys and 14 [73%] girls. Impaired puberty was found in 40 patients [71%]. Hypocalcaemia and primary overt hypothyroidism were present in 23 [41%] and 9 patients [16%], respectively. Only eight patients [14.3%] had no endocrine abnormalities. Despite therapy with deferoxamine to treat iron overload, the risk of secondary endocrine dysfunction remained high. Hypogonadism was one of the most frequent endocrine complications. Impaired glucose tolerance, short stature, hypocalcemia, subclinical and overt hypothyroidism are also frequent

Current status of iron overload and chelation with deferasirox.

A large number of complications in thalassemia major are due mainly to iron overload. Deferoxamine in iron-overloaded patients has established that chelation therapy, when given at an adequate dose, reduces iron-related complications. Parenteral administration and the daily nuisance of an infusion pump hinder the optimal compliance. Deferiprone is moderately effective oral iron chelator. Arthralgia and cytopenias constitute the main side effects. Deferasirox is a new orally effective iron chelator which has been shown to be non-inferior to deferoxamine in clinical trials. Further clinical trials especially in Indian children will tell if it stands the test of time.

A trial of deferiprone in transfusion-dependent iron overloaded children.

OBJECTIVE: To determine the efficacy and safety of deferiprone. DESIGN: Prospective study. SETTING: 5 paediatric medical units at the Lady Ridgeway Hospital for Children (LRHC), Colombo. PATIENTS: Transfusion-dependent iron overloaded children in the age group 2 to 15 years. INTERVENTION: Patients were given a total daily dose of 75 mg/kg of deferiprone orally in divided doses. MEASUREMENTS: Efficacy of deferiprone therapy was assessed by 4-monthly serum ferritin assays using the ELISA technique. Safety of deferiprone therapy was assessed by 4-weekly white cell counts, platelet counts and serum transaminase levels. The Z-test was used to assess the significance of the difference between the mean initial serum ferritin level and the mean subsequent serum ferritin level. RESULTS: 54 patients received deferiprone therapy for a mean duration of 9 +/- 3 months. Initial serum ferritin levels ranged from 1500 to 10,700 ng/ml with a mean of 5743. Subsequent serum ferritin levels, obtained in 48 patients ranged from 740 to 7300 ng/ml with a mean of 3558 (p < 0.001). In 47 of the 48 patients subsequent serum ferritin levels were lower than initial levels. One child developed severe neutropaenia, which reverted to normal on discontinuation of treatment. 11 children developed arthropathy, which responded to ibuprofen therapy combined in some cases with a reduction of the dose of deferiprone to 50 mg/kg/day. Serum transaminase levels were raised in 5 patients but reverted to pretreatment values or lower despite continuation of deferiprone therapy. CONCLUSIONS: Deferiprone is a safe and effective oral iron-chelating agent which can be used, under strict supervision, in transfusion-dependent iron overloaded children.