Thalassemia Intermedia Patients Research Articles

The effect of erythropoietin on blood parameters in thalassemia intermedia patients

Background: β-thalassemia is the most common hereditary disease in Iran, and more than 2 million carriers of β-thalassemia live in Iran. On the other hand, our country is located in the thalassemia belt, and no comprehensive study has been conducted regarding the effect of erythropoietin on blood parameters in thalassemia intermedia patients in our region. Therefore this study aimed to investigate the effect of erythropoietin on blood parameters of thalassemia intermedia patients.
 Materials and Methods: This prospective cross-sectional study was conducted on all patients suspected of thalassemia intermedia in Shahid Sadoughi hospital from March 2021 to M 2022. In the case of diagnosis of microcytic anemia, an electrophoresis test was performed, and people diagnosed with thalassemia intermedia entered the study. Then patients were divided into two groups (the intervention and control groups). The erythropoietin dose was 50-100 units/ kilogram (body weight) three times a week for six months. The measurement of hematocrit and hemoglobin were done using CBC cell counter (Sysmex KX21). Other data were extracted from medical records.
 ResultL: In the current study, the mean age of patients in the intervention and control groups was 9.15±1.53 and 8.35± 6.90 years old, respectively (p=0.9). The mean hematocrit level in the intervention and control groups was 28.05± 4.06 and 23.45± 3.22 %, respectively (P<0.001). The mean hemoglobin level in the two groups was 9.15± 1.53 and 7.65± 1.23 g/dL respectively (p=0.002). The mean hematocrit level before and after the intervention was 25±3.71 and 28.05±4.06 %, respectively. The mean hemoglobin levels before and after therapy were 7.9±1.52 and 9.15±1.53 g/dL, respectively.
 Conclusion: According to the findings, hemoglobin and hematocrit increased in thalassemia intermedia patients taking erythropoietin. Therefore it seems that recombinant erythropoietin can be helpful in these patients.

The effect of curcumin on serum copper, zinc, and zinc/copper ratio in patients with β-thalassemia intermedia: a randomized double-blind clinical trial

Thalassemia intermedia is a subgroup of β-thalassemia which originates from mutations in the beta-globin gene. Zinc and copper play important roles in the metabolism. Due to its significant therapeutic effects, curcumin has led many studies to focus on curcumin. In a double-blind clinical trial study, 30 patients with beta-thalassemia intermedia with an age range of 20 to 35years were randomly selected 1:1 to receive either curcumin or placebo for 3months. Before and after the intervention period, 5ml of blood was taken to determine the serum levels of zinc and copper. The laboratory tests were checked at baseline and at the end of the treatment. While the serum levels of zinc and zinc/copper significantly increased, the serum levels of copper decreased after 3months of curcumin intake. In addition, on the basis of baseline characteristics, a negative correlation was found between zinc and body mass index and positive correlations were identified between copper with triglyceride and high-density lipoprotein. Also, the level of ferritin protein in the curcumin group compared to the placebo group showed a significant decrease after 3months of curcumin use. Therefore, it could be concluded that curcumin might exert a net protective effect on copper toxicity in thalassemia intermedia patients. The investigation also implicated that curcumin represents an approach to regulating zinc homeostasis and may be useful as a complementary treatment of patients with thalassemia intermedia, especially in patients with zinc deficiency or low serum zinc/copper ratio. Clinical Trial Registration Number: IRCT20190902044668N1.

Contribution of Xmn I Polymorphism in the Variation of Hemoglobin F in Thalassemia Intermedia Patients in Pakistan

Background: The −158 (C→T) nucleotide change, known as Xmn I polymorphism, occurs in G γ-globin gene promoter and may result in elevated fetal hemoglobin (HbF). However some studies did not find any association of HbF with the mutation. This study was taken to confirm the influence of Xmn-I polymorphism on HbF production in thalassemia intermedia patients in Pakistani population. Methods: Blood samples from 100 known thalassemia intermedia patients were collected and analyzed for Xmn -I polymorphism and levels of hemoglobin F. Results: High levels of HbF were found in Thalassemia intermedia patients being heterozygous and homozygous for Xmn -I polymorphism. Conclusion: Xmn I polymorphism (C-T) of the G γ-globin gene promoter is associated with increased expression of the G γ-globin gene, higher production of HbF and lesser clinical severity.

Demographic and Treatment Status of Thalassaemia Patients in a Tertiary Hospital in Bangladesh

Introduction: Thalassaemia is now effectively treated with adequate blood transfusion and iron chelation. The disease process itself and iron overload from blood transfusions together produce multiple complications. Objective: Due to increased life expectancy of thalassaemia patients it is important to point out demographic profiles and clinical history related factors that may vary due to numerous causes. Therefore, objective of this study may lead to know the obstacles to access treatment and to find solutions to prevent complications in our socioeconomic background. Methodology: Three clinical types of thalassaemia were assessed in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. Total 109 subjects with thalassaemia were included in the study according to the inclusion criteria. They were distributed as thalassaemia major (33 subjects), thalassaemia intermedia (34 subjects) and thalassaemia minor (42 subjects). The patients were asked questions regarding demographic status and some clinical histories through a questionnaire. After compilation of the data statistical analysis was done accordingly. Results: The mean age of the subjects in years were 22.7 in thalassaemia major, 22.09 in thalassaemia intermedia and 22.5 in thalassaemia minor with nearly equal gender distributions. Students constituted 27.27% among thalassaemia major, 32.35% among thalassaemia intermedia and 30.95% among thalassaemia minor. The participants were educated up to primary level by 51.52% in thalassaemia major, 47.06 % in thalassaemia intermedia and 57.14 % in thalassaemia minor. Most of the subjects were Muslims and over 75% of the subjects came from outside the Dhaka the city. The mean number of life time transfusions were 105.33 in the patients of thalassaemia major, 33.85 in the intermedia and 0.76 in the minor. Iron chelation were done in 48.48% of thalassaemia major and 17.64% of thalassaemia intermedia at some point of their treatment. Splenectomy was done in 5 (15.15%) of thalassaemia major and 2 (5.8%) in thalassaemia intermedia patients. Before enrolment in the study 9.09% thalassaemia major, 50% intermedia and 83% minor subjects never visited haematologists or haematology OPD. Conclusion: Most of the subjects were at their working age and students and had to take treatment from inter-district facilities. Majority of the patients with thalassaemia intermedia and minor never consulted haematologists. Transfusion frequency was high with inadequate iron chelation.

Pregnancy in patients with hemoglobinopathies: 30-year results of a Greek Thalassemia and Sickle Cell Department

AbstractBackgroundThe aim of the current study is the longitudinal epidemiological study of pregnancies, their outcome and the changes in their treatment, in patients with hemoglobinopathies, during 30 years at a Thalassemia and Sickle Cell Department.MethodsThe data of a total of 47 pregnancies of 40 women with hemoglobinopathies monitored in the Thalassemia and Sickle Cell Department of Hippokrateio General Hospital of Athens were retrospectively collected. The data were divided and evaluated in two time periods, the first before 2000 and the second between 2000 and 2017.ResultsThere were four miscarriages and 43 completed pregnancies. The mean pregnancy duration was 34.92 weeks. Thalassemia major and thalassemia intermedia patients had higher percentages of in vitro fertilization (IVF) pregnancies and IVF attempts, with the majority of IVF attempts and pregnancies in the time period after 2000. During the period 2000–2017, more women received transfusions and iron chelation therapy both before and during pregnancy compared to the period before 2000. During the period 2000–2017, three women presented hemorrhagic complications. Placental abruption occurred in two cases, while one woman suffered a stroke. Six women had liver disease and two cardiac problems.ConclusionThe rate of pregnancies in women with hemoglobinopathies has increased after the year 2000 due to the increased use of IVF technique. Pregnancy planning, close collaboration between gynecologists and hematologists and appropriate pregnancy monitoring are essential for an optimal pregnancy outcome.

Screening of Thalassemia in pregnant females visitng tertiary hospital in Amritsar

Thalassemic patients live a prolonged life in the light of breakthrough of treatment options and early diagnosis, and therefore it is a matter of interest and importance to have a successful reproductive outcome in such patients. Having a child is the dream and readiness of being pregnant is the inclination of not only Thalassemia intermedia patients but also females suffering from Thalassemia major. Thalassemia is an incurable disease till now and producing thalassemia children only enhances the disease burden both for the society and family. This augments the need of successful and early screening thalassemic pregnancies and counseling them for the possible outcomes. The present study was conducted in 460 pregnant Females attending OPD of SGRDIMSAR, Sri Amritsar. Samples were taken after informed consent and processed for Complete Blood Count and Hemoglobin Fractionation using HPLC by Borad. Most of the females had hemoglobin levels between 9-10 g % forming 41.3% of the total females (). Out of 460 patients enrolled in the study, 21 Females were found to have hemoglobin variants on screening amounting the prevalence of carrier states to 4.53% (). All pregnant females should be screened for thalassemia carriers in early antenatal period and positive patients should have screening of the partner along with relevant counseling regarding treatment options. Cost effective diagnostic options should be made available in the periphery for mass screening.

Mutation in thalassemia syndrome and clinical manifestation

Introduction: Thalassemia intermedia is a term used to define a group of patients with β thalassemia in whom the clinical severity of the disease is somewhere between the mild symptoms of the β thalassemia trait and the severe manifestations of β thalassemia major. Thalassemia intermedia shows considerable heterogeneity in phenotype and molecular basis. Objectives: The aim of this study was to identify the common mutations of beta globin gene and the relationship between genotypes and phenotypes in thalassemia intermedia patients in Mazandaran province, in the north of Iran. Patients and Methods: Fifty unrelated thalassemia intermedia patients, based on clinical and hematological characteristics including age of diagnosis, age of first blood transfusion, history of blood transfusion, mean corpuscular volume (MCV), mean cell hemoglobin (MCH), hemoglobin values, and liver and spleen status were selected. DNA of peripheral blood was extracted and common mutations in beta globin gene were analyzed by reverse dot blot (RDB) method. Results: Our study showed that 30 patients (60%) had blood transfusion. There was no obvious hepatomegaly in any of the subjects, however 40 patients (80%) showed splenomegaly among which 34 cases (68%) underwent splenectomy. Mutations analysis indicated that HBB:c.315+1G>A [IVS II-1 (G>A)] mutation was the dominant mutation and has been widely associated with the phenotypic manifestations of thalassemia intermedia patients. Conclusion: It is important to comprehend the molecular basis of thalassemia intermedia and the association between genotype and phenotype in different ethnic groups. Therefore a careful evaluation of genetic, molecular, hematological and clinical aspects is necessary to differentiate thalassemia intermedia in patients at presentation.

Assessment of Atherosclerosis in Peripheral and Central Circulation in Adult β Thalassemia Intermedia Patients by Color Doppler Ultrasound: Egyptian Experience

Background: Atherosclerosis has been extensively studied in thalassemia major (TM) and sickle cell disease but not yet in β thalassemia intermedia (TI). Previous studies concerned with TM were performed in children. TI patients usually live longer and, thus, are more prone to complications of atherosclerosis. Aim: In our study, we applied color Doppler for the determination of arterial conduit and flow velocities in β TI patients. Methods: For central circulation, we measured right and left middle cerebral arteries (MCAs) and basilar artery (BA) mean flow velocity (MFV), pulsatility index (PI), and peak systolic velocity (PSV) as well as carotid intimal media thickness, and to assess peripheral circulation, we studied ankle/brachial index and posterior and anterior tibial arteries’ (ATA, PTA) pressure and PSV. This was applied for 30 adult TI patients and 20 age-, sex-, and ethnic group-matched controls. Results: Transcranial Doppler findings among cases and controls showed that the MFV, PSV of MCAs, and PSV, PI, and MFV of the BA were statistically higher in cases than controls. A comparison between splenectomized and nonsplenectomized patients showed that total leukocyte count, platelet count, lactate dehydrogenase, ferritin, PSV and MFV of the left MCA were all statistically higher in splenectomized cases. Differences between males and females with TI with respect to laboratory and Doppler findings were all statistically insignificant except for intima media thickness, PTA pressure, ATA pressure, and PSV. Conclusion: More than one parameter should be applied to assess atherosclerosis in TI. There is evidence of an increased risk of central ischemia rather than peripheral ischemia in these patients.

Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.

Introduction:Thalassemia is a genetic disorder, which shows, varies phenotype due to genetic modifier. XmnI is one of the genetic modifiers which affect clinical severity in thalassemia. XmnI polymorphism may increase HbF production beyond fetal life, thus ameliorating the clinical phenotype.Aim:this study aimed to investigate the difference in HbF level and the relation of HbF level and XmnI polymorphism in Thalassemia Major (TM) and Thalassemia Intermedia (TI) patients.Methods:forty-eight beta thalassemia patients (28 males and 20 females), consists of 16 TM and 32 TI; mean age, 25.30 year old. Hemoglobin Fetal and HbA2 level were determined using High performance Liquid Chromatography (HPLC), and XmnI polymorphism was confirmed by PCR-RFLP. Statistical analysis was done using T-test, Mann-Whitney and Pearson Chi-square.Results:The frequency of heterozygote (+/-) XmnI polymorphism in TM and TI patients was 56.25% vs 71.87%, while the frequency of homozygote (-/-) in TM and TI was 43.75% vs 28.13% with p value >0.05. The insignificant difference also found in HbF level between XmnI +/- and -/- in TM and TI patients.Conclusion:This study revealed that thalassemia major and thalassemia intermedia patients in East Java showed similar XmnI polymorphism. These phenomena also showed by HbF level in relation to XmnI polymorphism in the phenotype groups (TM and TI).

PB2403 ROLE OF HYDROXYUREA IN BETA THALASSEMIA INTERMEDIA

Background:Thalassemia Intermedia is a term used to define a group of patients with β thalassemia in whom the clinical severity of the disease is somewhere between the mild symptoms of the β thalassemia trait and the severe manifestations of β thalassemia major.1,2Thalassemia intermedia encompasses a wide clinical spectrum. Mildly affected patients are completely asymptomatic until adult life, experiencing only mild anemia and maintaining hemoglobin levels between 7‐10g/dL. These patients require only occasional blood transfusions, during acute infections or blood loss. Patients with more severe thalassemia intermedia generally present between the ages of 2 to 6 years, and although they are able to survive without regular transfusion therapy, but growth and development can be retarded.2There is currently no definitive treatment to correct the globin chain imbalance in thalassemia, but the promising approach involves the use of therapeutic agents to definitively correct the globin chain imbalance by re‐activating the fetal globin genes. Hydroxyurea, a cytotoxic drug,is reported to be useful in reducing this degree of imbalance, thus decreasing the disease severity. Due to the lesser α/β globin imbalance in β‐thalassemia intermedia (TI), compared with thalassaemiamajor, better clinical responses are expected in patients with TI. 3,4 Aims:Objective: To determine the clinical response and frequency of side effects of hydroxyurea in thalassemia intermedia patients in local population.Methods:Patients and methods: Descriptive case series study was conducted in Pediatrics Department of Fatima Memorial Hospital, Lahore from August to December 2016. Total 150 patients clinically diagnosed to have thalassemia intermedia fulfilling inclusion criteria were enrolled, interviewed and examined. Baseline investigations were sent to monitor the side effects of hydroxyurea. Hydroxyurea was started at dose of 15 mg/kg/day and patients were called after every fortnight for first 8 weeks and then monthly for 4 months.If no response seen on first visit, dose was increasedto 20 mg/kg/day and called again after 2 weeks. If still no rise in Hb observed, labelled as” no response”, if Hb increase then label as according to clinical response criteria. Patients were graded according to clinical response criteria after 3 months starting of hydroxyurea. For blood transfusion frequency, patients’ blood transfusion record was explored for their mean pre‐transfusionHb levels and red cell consumption after and before start of hydroxyurea in 3 months. For leucopenia, complete blood count was repeated after 1 month starting hydroxyurea.For diarrhea, clinical examination and assessment was done after 1 month of starting hydroxyurea. For neuropathy clinical assessment was done periodically first on monthly visits.Results:Out of 150 patients, 79(53%) were transfusion dependent and 71 (47%)were transfusion independent. Total of 123 (82%) showed response and 27 (18%) showed no response even after increasing dose from 15 mg/kg/day to 20 mg/kg/day. Out of 123 responders, 74 (49.3%) were good responder, 49 (32.7%) were partial responder. In good responders mean increment in hemoglobin ranged between 1.5 g/dl to 2.5 g/dl.Summary/Conclusion:Conclusion: Hydroxyurea is an effective and well tolerated drug for the treatment of thalassemia intermedia with very few side effects. With use of this medicine, regular blood transfusions and its hazards can be prevented in these patients.

Prevalence of abnormal glucose homeostasis in Chinese patients with non-transfusion-dependent thalassemia.

Purpose: To determine the prevalence and underlying pathology of abnormal glucose homeostasis in Chinese patients with non-transfusion-dependent thalassemia (NTDT).Patients and methods: In this study, we enrolled 211 patients aged 4–63 years with NTDT, including 79 β thalassemia intermedia patients, 114 Hb H disease patients and 18 Hb E/β thalassemia patients. All had oral glucose tolerance test, serum ferritin (SF), homeostasis model assessment (HOMA) and liver iron concentration (LIC) measurement. One hundred and twenty healthy age-matched controls were also used for the comparative purpose. Iron load was assessed by using SF and hepatic load by LIC using validated MRI techniques.Results: The 211 patients were divided into three groups according to their fasting and 2 hrs postprandial blood glucose levels: hypoglycemic, normal glucose tolerance (NGT) and hyperglycemic groups. In this study, 149 patients had NGT, 33 had hypoglycemia, 4 had diabetes and 25 had impaired glucose tolerance (IGT). None had impaired fasting glucose. There was a significant correlation between 2 hrs postprandial blood glucose levels and age, PINS120, HOMA-IR, alanine aminotransferase and LIC (P<0.05). Risk factors for IGT in NTDT patients were older age (≥24 years) and SF concentration of ≥2,500 ng/mL.Conclusion: Age ≥24 years and SF ≥2,500 ng/mL of NTDT patients were at a greater risk for impaired glucose tolerance.

A comparison of heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major

ABSTRACTBackground: The goal of this study was to compare heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major.Method: In this cross-sectional study, 60 patients with beta thalassemia major and 60 patients with beta thalassemia intermedia who had clinically no symptoms of arrhythmia and clinically normal heart function were evaluated using 24-hour ambulatory electrocardiogram monitoring and echocardiography. For data analysis SPSS ver.20 software was used. A P-value of less than 0.05 was considered statistically significant.Results: The mean age of the beta thalassemia intermedia patients was 24.18 ± 7.9 years and the mean age in beta thalassemia major was 24.38 ± 7.7 years (P>0.05). Premature atrial contractions (PACs) were observed in 14 (23.3%) patients with beta thalassemia intermedia and in 22 (36.6%) beta thalassemia major patients. Premature ventricular contractions (PVCs) were detected in 8 (13.3%) patients in the beta thalassemia intermediate group and 16 (26.6) patients in the beta thalassemia major group, respectively. The left ventricular diastolic dimension, end-diastolic volume, and stroke volume were significantly higher in beta thalassemia intermedia group (P<0.05). Pulmonary acceleration time as an indicator of pulmonary pressure was lower in beta thalassemia intermedia group.Conclusion: Both atrial and ventricular arrhythmias were more common in the beta thalassemia major group. Higher end-diastolic volume and stroke volume were detected in the beta thalassemia intermedia group. Pulmonary acceleration time was lower in the beta thalassemia intermedia group, which can be an indicator of higher pulmonary pressure.

Compressive Optic Neuropathy in Thalassemia: A Rare Ophthalmic Consequence of Extramedullary Hematopoiesis

Extramedullary hematopoiesis (EMH) is a compensatory physiological proliferation of hematopoietic elements outside the bone marrow as a result of insufficient bone marrow erythropoiesis. It is found in various hematologic disorders (e.g., as sickle cell anemia, thalassemia, myelofibrosis) especially those with chronic anemias. It can affect in any organs, thus producing numerous complications. However, compressive optic neuropathy has been rarely reported. The authors present a case report of an 18-year-old man who was known to be beta thalassemia/Hb E disease with the presentation of compressive optic neuropathy with an excellent response to combination treatment of blood transfusions and low-dose radiotherapy. These findings reflect that beta thalassemia/Hb E or thalassemia intermedia patients should have periodic comprehensive ophthalmic assessment especially those with inadequate blood transfusions. Moreover, favorable visual outcome can be achieved with early recognition and prompt management with blood transfusions combined with low-dose radiotherapy.

Prevalence of Pulmonary Hypertension in Patients with Thalassemia Intermedia in 2009: a single center's experience.

Background:There are various clinical symptoms of thalassemia intermedia, and they lie roughly between those of major and minor forms of the disease. Patients with thalassemia intermedia occasionally require blood transfusions. This renders them susceptible to pulmonary arterial hypertension (PAH) syndrome, which is one of the most significant complications in patients with thalassemia intermedia. PAH is more common in in thalassemia intermedia than in thalassemia major, and it may cause cardiac complications in patients who are older than 30. The objective of this study was to estimate the prevalence of PAH in thalassemia intermedia patients so that they can be referred expeditiously for treatment, thereby preventing the complications that occur later.Methods:This cross sectional study was conducted under the supervision of hematology department of Mashhad Medical University. Forty-one patients with thalassemia intermedia were examined at the Sarvar Thalassemia and Hemophilia Clinic of Mashhad. Electrocardiography, chest radiography, and echocardiography tests were performed for all of the patients by the same pediatric cardiologist. The data were processed by SPSS software, version 11.5, and the results were analyzed using chi-squared, Student’s t, and Mann-Whitney tests.Results:The mean age of the patients was 21.93±8.34. They had been under pediatric heart specialists’ constant examination and treatment since their childhood when they were diagnosed with TI, and continue to receive regular follow-up care. The prevalence of pulmonary hypertension was 24% in our study population. In patients with thalassemia intermedia, the left ventricular (LV) mass indices were about 3–5 times higher than would be expected in a normal population. Patients with higher LV mass indices have a greater risk of developing pulmonary hypertension, and those with serum ferritin levels below 1000 ng/ml are less susceptible to diastolic dysfunction.Conclusion:Pulmonary hypertension is common in patients with thalassemia intermedia. Irregular chelation therapy or absence of this treatment might lead to diastolic dysfunction, and serum ferritin levels below 1000 ng/ml could be an important factor in preventing the development of diastolic dysfunction or slowing down its progression.

A prospective MRI study of left ventricular iron and function in non-trasfusion-dependent thalassemia intermedia patients treated with desferrioxamine

Background In thalassemia intermedia (TI) patients no observational study prospectively evaluated in the real life the efficacy of the desferrioxamine (DFO) therapy in removing or preventing myocardial iron overload. The efficacy endpoint of this study is represented by the changes in cardiac T2* values and left ventricular (LV) function parameters in non-transfusion dependent (NTD) TI patients after 18 months of desferrioxamine therapy.

MRI prospective survey on cardiac and hepatic iron in transfusion-dependent thalassemia intermedia patients treated with desferrioxamine, deferiprone and deferasirox

Results Three groups of patients were identified: 27 patients (13 females, mean age 40.12±10.31 years) treated with desferioxamine (DFO mean dosage 37.52±8.69 mg/kg/ die), 23 patients (14 females, mean age 34.73±10.67 years) treated with deferiprone (DFPdosage 71.70 ±14.46mg/kg/die) and 14 patients (9 females, mean age 36.63±10.92 years) treated with deferasirox (DFX mean dosage 27.75±5.04 mg/kg/die). Excellent/good levels of compliance were similar in the DFO (92.6%), DFP (100%) and DFX (100%) groups (P=0.345). The mean starting age of regular transfusion was 14.73 ±15.89 years. At baseline in DFO group two patients (7.4%) showed a global heart T2*<20 ms and one of them showed no cardiac iron at the FU. At baseline in DFP group two patients (8.7%) showed a global heart T2*<20 ms and one of them showed no cardiac iron at the FU. All the 5 patients (35.7%) under DFX therapy with pathological global heart T2* at the baseline remained at the same status at the FU. The percentage of patients who maintained a normal global heart T2* value was comparable for DFO (100%), DFP (100%) and DFX (88.9%) groups (P=0.164). Among the 46 patients with hepatic iron at baseline (MRI LIC ≥3 mg/g/dw), the reduction in the MRI LIC values was significant only in the DFO group (DFO: -3.39±6.38 mg/g/dw P=0.041; DFP: -2.25±6.01 mg/g/dw P=0.136 and DFX: -0.36±5.56 mg/g/dw P=0.875). The decrease in MRI LIC values was comparable among the groups (P=0.336). The number of patients with a MRI LIC<3 mg/g/dw went up from 10 (37%) to 11 (40.7%) in the DFO group, from 6 (26.1%) to 8 (34.8%) in the DFP group and from 2 (14.3%) to 8 (57.1%) in the DFX group. The percentage of patients who maintained a normal MRI LIC value was comparable for DFO (90%) vs DFP (50%) and DFX (100%) groups (P=0.191).

Effect of vitamin E supplementation on inflammatory markers and nutrition status in thalassemia intermedia patients

Effect of vitamin E supplementation on inflammatory markers and nutrition status in thalassemia intermedia patients

Pulmonary hypertension in well-transfused thalassemia major patients.

The risk for pulmonary hypertension (PH) in thalassemia major (TM) patients remains controversial. We report echocardiography results from 60 TM patients: we evaluated the association between tricuspid regurgitation velocities (TRV), iron stores, and serologic markers of hemolysis and arginine dysregulation. Patients were enrolled from August 2004 until May 2009. All parameters were inversely weighted by the number of exams. TRV was comparable between sexes and it was uncorrelated with age. At the first exam, TR velocities at the upper limits of normal (2.5-2.7m/s) were observed in 8 patients. An abnormal TRV (2.9m/s) was found in 1 patient. Borderline increases in TRV were associated with a reduced global arginine bioavailability (R=-0.399 P=0.005), increased anemia (hemoglobin: R=-0.219 P=0.0461), cardiac index (R=0.223 P=0.0481), and diastolic dysfunction (E/A: R=0.289 P=0.0088; E/E': R=0.223 P=0.0453), but not hemolysis, iron overload and systolic function evaluated by Magnetic Resonance Imaging, and splenectomy. Well-transfused TM patients have a lower risk for PH than thalassemia intermedia patients. However, they do have vascular stressors that raise their lifetime PH risk to levels higher than for the general population. Consequently, we support recommendations for annual echocardiographic screening and cardiac catheterization for persistent TRV above 3m/s.

Prise en charge actuelle des thalassémies intermédiaires

Thalassemia intermedia is a clinical entity where anemia is mild or moderate, requiring no or occasional transfusion. Non-transfusion-dependent thalassemia encompasses 3 main clinical forms: beta-thalassemia intermedia, hemoglobin E/beta-thalassemia and alpha-thalassemia intermedia (HbH disease). Clinical severity of thalassemia intermedia increases with age, with more severe anemia and more frequent complications such as extramedullary hematopoiesis and iron overload mainly related to increased intestinal absorption. Numerous adverse events including pulmonary hypertension and hypercoagulability have been associated with splenectomy, often performed in thalassemia intermedia patients. The potential preventive benefit of transfusion and chelation therapies on the occurrence of numerous complications supports the strategy of an earlier therapeutic intervention. Increasing knowledge about pathophysiological mechanisms involved in thalassemia erythropoiesis and related iron overload is currently translating in novel therapeutic approaches.

Oral Phosphodiesterase Type 5 Inhibitors in Recurrent Priapism Complicating Thalassemia Intermedia: A Case Report

Recurrent priapism is a rare, serious and difficult to treat complication of some hematological disorders, for which no standard therapy exists. This study reports a case of a 42-year-old man with thalassemia intermedia complicated by recurrent episodes of priapism. To prevent priapism recurrences, a trial of PDE5is use was initiated. One day after initiation of a PDE5i (25 mg sildenafil repeated every 8 hours), priapism was improved. For 3 weeks, the patient reported improvement, without experiencing any episodes of priapism and a normal physiologic erectile function. Four weeks after treatment he experienced priapism reoccurrence and doubling of the Sildenafil was not effective. Gonadotropin-releasing hormone agonist initiated and one week after initiatin of new drug he improved. He was free of priapism episodes for more than 2 years afterward. PDE5 deregulation seems to be an underling pathologic mechanism of recurrent priapism at least in thalassemia intermedia patients. It appears that PDE5is may have a role in the management of such patients and further testing in clinical trials is needed.