Thalassemia Clinic Research Articles

Low levels of coagulation inhibitors: a high-risk thrombotic factor in thalassemic patients

Background and aimThe β-thalassemia major (β-TM) is defined as a hereditary red blood cell (RBC)- related disease. Thrombotic events are associated with thalassemia in adult patients. Thus, the present investigation was aimed to examine some hemostatic parameters, including anti thrombin- III (AT-III), protein-C (PRC) and protein-S (PRS) in β-TM patients. MethodsThirty B-TM patients who referred for routine follow-up admission to the thalassemia clinic of Kerman Special Disease Center alongside with 30 healthy subjects were selected and enrolled in the present study. Further registration, the peripheral blood specimens were collected after 3 weeks of last transfusion and then the plasma concentrations of AT-III, PRC and PRS were measured in them. ResultsWe have observed that the concentrations of natural coagulation inhibitors (PRC and PRS) were significantly attenuated in β-TM patients (P < 0.05), while the plasma level of AT-III was not remarkably differed in β-TM patients in compare to healthy subjects. ConclusionAccording to the findings of present work, significant changes in the PRC, PRS and AT-III which could be observed in multi transfused β-TM patients may attribute as critical risk factors for the development of upcoming thromboembolic events in their future life.

Bajos niveles de inhibidores de la coagulación: un factor de alto riesgo trombogénico en pacientes talasémicos

Background and aimThe β-thalassemia major (β-TM) is defined as a hereditary red blood cell-related disease. Thrombotic events are associated with thalassemia in adult patients. Thus, the present investigation was aimed to examine some hemostatic parameters, including anti thrombin-III (AT-III), protein-C (PRC) and protein-S (PRS) in β-TM patients. MethodsThirty B-TM patients who referred for routine follow-up admission to the thalassemia clinic of Kerman Special Disease Center alongside with 30 healthy subjects were selected and enrolled in the present study. Further registration, the peripheral blood specimens were collected after 3 weeks of last transfusion and then the plasma concentrations of AT-III, PRC and PRS were measured in them. ResultsWe have observed that the concentrations of natural coagulation inhibitors (PRC and PRS) were significantly attenuated in β-TM patients (P<0.05), while the plasma level of AT-III was not remarkably differed in β-TM patients in compare to healthy subjects. ConclusionAccording to the findings of present work, significant changes in the PRC, PRS and AT-III which could be observed in multi transfused β-TM patients may attribute as critical risk factors for the development of upcoming thromboembolic events in their future life.

Assessment of serum ferritin levels in transfusion dependent thalassemic children on oral deferiprone in a tertiary care centre

Background: Thalassemic patients require regular blood transfusions to maintain haemoglobin level around between 10gm/dl-15gm/dl, which would result in transfusional iron overload. The treatment of iron overload is carried out by using parenteral desferrioxamine (DFX) therapy or recently introduced oral Deferiprone (DFP,L1,Ferriprox,KELFER,CP20) an oral iron chelator, Oral deferiprone, DFP (3-hydroxy-1,2-dimethylpyridin-4-one) is a synthetic analogue of mimosine, an iron chelator isolated from the legume Mimosa paduca. Our study was undertaken to asses ferritin concentration in transfusion dependent thalassemic children on Deferiprone, attending thalassemia clinic in Anil Neerukonda hospital, Sanghivalasa, Visakhapatnam.Methods: The present study was a hospital based prospective study, 50 transfusion dependent thalassemic children on Deferiprone, attending thalassemia clinic in Anil Neerukonda hospital, Sanghivalasa, Visakhapatnam attached to NRI Medical College, Visakhapatnam were enrolled during the study period October 2017 and September 2018.Results: In our study authors found an increase in Serum ferritin concentration from 3067.99±1520.13 to 4281.10 ±1760.42 ng/ml at the end of 12 months, which was quite significant.Conclusion: Authors concluded that oral Deferiprone is not an effective iron chelation agent and is associated with complications like GI symptoms, joint pains in significant number of children. So, search for an alternative iron chelator or combined chelation therapies which are safe and cost effective should be continued.

PB2413 HAEMOGLOBIN AGHIA SOPHIA (HBA1:C.187_189DELGTG) IN NORTHERN GREECE. IMPLICATIONS IN CLINICAL PHENOTYPE OF HBH

Background: Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and the clinical phenotype varies from almost asymptomatic to a lethal haemolytic anaemia. It is probably the most common monogenic gene disorder in the world. Several mutations have been described that can affect globin gene expression in any step and many of those mutations are rare causes of alpha thalassaemia. Aims: 28 patients have been diagnosed with Hb H disease (14 males and 14 females) from 1986 to 2019 at the regions of Central and Western Macedonia in Northern Greece with a population of around 2.5 million. The most prevalent genotype was the -α 3.7/—med, (5 cases), 2 cases of –α 3,7/-α5,2, 1 case of –med/αPoly A, 1 case of –α 3,7/Hb Adana and 1 case of Hb Aghia Sophia/--med. The phenotype suggests that HbH disease in Greece has in general a moderate presentation. The molecular characterization of the patients with Hb H disease is useful for the prediction of the clinical outcome and the genetic counselling of the couples at risk. Methods: Hb Aghia Sophia carriers are asymptomatic with normal or nearly normal Hb levels and red cell indices similar to α+ thalassaemia carrier as it was shown in 2 members of a family that this mutation was also detected in our region. Haemoglobin (Hb) Aghia Sophia in interaction with deletional α-thalassaemia mutations leads to HbH. We report a case of Hb Aghia Sophia with co-inheritance with the a-thalassaemia – med deletion, a rare double heterozygosity case. Results: The case presented, concerns a 40 year old woman followed in our Thalassemia Clinic who was diagnosed at the age of 8 with Hb H. At diagnosis, totally incidental findings were compatible with a typical phenotype of Hb H, anaemia being mild and growth not having been impaired. As a girl, she retained a mild hypochromic microcytic anaemia until the age of 10 that a splenectomy was decided due to marked splenomegaly and anemia. During the following years her hemoglobin was maintained around 8gr/dl and she had normal growth. At the age of 35 she had an abortion. She was transfused each month during the next two pregnancies. Lately she was complaining for fatigue and her hemoglobin value was 7gr/dl. The investigation of hemoglobin deterioration did not reveal any significant cause. Bone marrow aspiration showed increased erythroid hyperplasia. Molecular examination revealed Aghia Sophia with co-inheritance with the a-thalassaemia – med deletion. As she denied transfusion, erythropoietin therapy was started with good results maintaining Hb level to 9gr/dl. Additionally, she receives deferasirox due to iron overload. Summary/Conclusion: The co-inheritance of Hb Aghia Sophia with –med, is extremely rare and the severity is due to the interaction of a hyper unstable mutant of the a1 gene with an α0-thal determinant. Hb Aghia Sophia causes instability to the polypeptide chain and is rapidly catabolized. Long follow-up of such rare cases is necessary in order to gain as much information as possible, so as to offer the best management to the patients and the most accurate counseling to their families.

Correlation between Pancreatic MRI T2* and Iron Overload in Adult Transfusion Dependent Beta Thalassemia Patients with Growth Retardation: A Single Centre Study in Indonesia

Correlation Between Pancreatic MRI T2* And Iron Overload in Adult Transfusion Dependent Beta Thalassemia Patients With Growth Retardation: A Single Centre Study in IndonesiaFaizal Drissa Hasibuan, MD1,2, Tb. Djumhana Atmakusuma, MD, PhD3,41Department of Internal Medicine, 2Faculty of Medicine Yarsi University Jakarta, Indonesia, 3Medical Hematology - Oncology Division of Internal Medicine Department Cipto Mangunkusumo Hospital, 4Faculty of Medicine Universitas Indonesia, Jakarta, IndonesiaThe prevalence of thalassemia in Indonesia is one of the highest in the world. It is estimated that the prevalence of beta thalassemia carrier is around 3-10%. In 2016, thalassemia center in Cipto Mangunkusumo Hospital (RSCM) Jakarta recorded 9031 patients suffering from major thalassemia in Indonesia. 441 are adult thalassemia patients (age 18 and above) recorded in Kiara thalassemia and hematology-oncology clinics in RSCM. Based on a survey from TIF, endocrine aspect of the thalassemia patients is often ignored by the clinicians. Growth retarded patients are commonly found in the thalassemia clinic in RSCM. Publication regarding the pancreas and its correlation with iron overload in adult beta TDT patients is currently not available in Indonesia. Therefore, the aim of this study was to describe iron overload condition based on the pancreatic MRI T2* and its correlation with beta TDT adult patients who suffer from growth retardation.A cross sectional study was conducted to determine the prevalence of endocrine disorders in adult TDT beta patients, followed by looking for correlation of excess iron load with endocrine function in adult TDT beta patients with growth retardation in adult Thalassemia clinic RSCM Jakarta on December 2017. Patients with HBsAg or Anti HCV positive were excluded. Excess iron is defined as Transferin Saturation (ST) greater than 50% regardless of serum ferritin or serum ferritin (FS) levels greater than 1000 ng/mL regardless of ST or both.The growth retardation is defined as the standing height of the research subject which is lower than the Mid Parental Height (MPH) value of both parents. Pancreatic MRI T2* used magneto avanto Siemens 1,5T with CMR software.We found from 58 patients who followed the study, 32 patients underwent the pancreatic MRI T2* examination with 13 female (40,6%) and 19 male (59,4%). Patients with homozygous beta thalassemia are 16 people (50%) and beta/HbE thalassemia 16 people (50%). The Proportion of low pancreatic MRI T2* values was found to be 87.5%, with moderate hemosiderosis in 13 patients (40.63%) and severe hemosiderosis not found (Table 2). The age range of the study subjects was relatively young with a median age of 21 years. Although the median body weight of study subjects was 42 kg, the median BMI still included in normal range. Excess iron content in this study was assessed with serum ferritin, obtained median 4982.5 ng/mL and transferin saturation with a median of 100%, indicates the subject of research are in a state of excess iron load. This is due to the possibility of inflammation, inadequate use of chelation, hemolysis in thalassemia, hypertransfusion to achieve the target of 12 g/dL for women and 13 g/dL for men. There was no significant correlation between serum ferritin and pancreatic MRI T2* value, nor did a significant correlation between transferrin saturation with pancreatic MRI T2* value (Table 3). In this study, there was a high proportion of subjects with low pancreatic MRI T2* value of 28 subjects (87,5%), divided into 15 mild hemosiderosis (46,87%), 13 moderate hemosiderosis (40,62%) and none of severe hemosiderosis. Our study is the first study which look for the correlation of the excess iron load (serum ferritin and transferrin saturation) with endocrine function in adult TDT beta patients with retardation of growth in Indonesia. This research has limitations. First, it was a cross sectional study so it is not known exactly the beginning of endocrine disorders in the subject . The second limitation, analysis of iron chelation therapy did not do in this study.Finally, we concluded that there was no correlation between pancreatic MRI T2* and iron overload based on serum ferritin and transferrin saturation. Further longitudinal studies in adult TDT patients with thalassemia who have not and have retarded growth were needed. DisclosuresNo relevant conflicts of interest to declare.

Serum IGF-1 and short stature in adolescents with beta-thalassemia major

Background The prevalence of short stature in thalassemia patients ranges from 39.3 to 65%. The cause of short stature is complex and still up for debate. In Indonesia, data on the prevalence and risk factors of short stature in adolescents with thalassemia have been limited.&#x0D; Objective To assess for the prevalence and risk factors of short stature in adolescents with beta-thalassemia major.&#x0D; Methods This cross-sectional study was done from February to March 2017 at the Thalassemia Clinic at Dr. Hasan Sadikin General Hospital, Bandung. The baseline characteristics data of 80 adolescents with thalassemia aged 10-14 years were recorded. Short stature was assessed by height-for-age, (Z-score &lt;-2SD) based on the 2007 WHO Reference Growth Chart. Mid-upper arm circumference was scored according to age and sex and serum IGF-1 was measured by ELISA method. Data analyses used were Chi-square, Fisher’s, and Mann-Whitney tests. Logistic regression model was used to further analyze for risk factors of short stature.&#x0D; Results Subjects were 40 males and 40 females, 81.2% of whom had short stature. The mean serum IGF-1 level was 32.2 (SD 26.38) ng/mL. The IGF-1 cut-off point by ROC curve was £38.51 ng/mL, with sensitivity of 64.4% and specificity of 86.7%. The risk factors of short stature were IGF-1 level £38.51 ng/mL (PR 40.66; 95%CI 4.37 to 377.58; P&lt;0.001) and low family income (PR 19.76; 95%CI: 1.152 to 256.08; P=0.022).&#x0D; Conclusion IGF-1 level may be useful as a predictor of short stature in adolescent beta-thalassemia major patients.

The Zinc and Copper Levels in Thalassemia Major Patients, Receiving Iron Chelation Therapy.

Essential trace elements deficiency including zinc and copper are frequently reported in the literature, but the results are controversial. The aim of this study was to evaluate zinc and copper levels in thalassemia major (TM) patients who were on regular transfusion and iron chelation therapy. In a case-control cross-sectional study 43 TM patients and 43 age-matched and sex-matched healthy controls were examined. Patients were selected by convenience sampling method from TM patients who were registered in Thalassemia Clinic during 6 months. Serum zinc and copper levels were evaluated in all subjects. Zinc and copper dietary intake were also assessed. The median zinc level in the participants was significantly lower than the control group (35 [6.3 to 298] vs. 173 [3.1 to 584] μg/dL; P<0.05), but the mean copper level was significantly higher in the patients in comparison with the control group (260±118 vs. 201±69 μg/dL; P<0.05). In contrast, the mean zinc and copper dietary intake in the patient's group were significantly lower than the control group. The mean serum zinc and copper levels in the patient's group were not different according to iron chelation therapy type. Also, zinc and copper levels in the patient's group were not statistically significant based on ferritin level, age, and duration of therapy. Essential trace elements level change and deficiency might occur in TM patients. Hence, routine assessment of these elements is recommended for better management.

The frequency of hypothyroidism and its relationship with HCV positivity in patients with thalassemia major in southern Iran.

Introduction: Hypothyroidism is one the most complication due to iron overload in patients with β-thalassemia major (TM). On the other hand these patients are prone to Hepatitis C virus (HCV) infection that can cause thyroid dysfunction by itself or as the side effect of treatment with interferon (INF) or IFN plus ribavirin. The aim of this study is to evaluate the association of hypothyroidism with HCV positivity and serum ferritin levels in patients with TM. Methods: In this cross-sectional study, 201 randomly selected patients with TM who were registered at the Thalassemia Clinic of a tertiary hospital in Shiraz, southern Iran were investigated. Thyroid function tests and serologic screening assays for HCV seropositivity (HCV Ab and HCV-RNA) were conducted for all patients. Results: Frequency of hypothyroidism was 22.9% including 19.9% subclinical hypothyroidism, 2% primary overt hypothyroidism and 1% central hypothyroidism. Eighty six patients (42.8%) were HCV Ab positive and 60 patients (29.9%) were HCV RNA positive. No significant relationship was found between hypothyroidism and HCV positivity or receiving IFN-α (P>0.05). Hypothyroidism showed a borderline significant association with high serum ferritin levels in TM patients (P=0.055). Conclusion: Our results showed no significant association between hypothyroidism and HCV infection in TM patients. It seems that the main mechanism of hypothyroidism in our patients is iron overload; however, for better evaluation a larger multicenter study is recommended. Also due to the importance of consequences of HCV infection, more careful pre-transfusional screening of blood should be considered in TM patients.(www.actabiomedica.it)

An Urgent Need for Improving Thalassemia Care in Adult Patients Due to a Wide Gap on Current Real-Life Practice and Recommended Clinical Practice Guidelines

BackgroundThalassemia syndromes are the most common hereditary hemolytic anemia worldwide. Since 2013, Thalassemia International Federation (TIF) has launched new standard clinical practice guidelines (CPG) for non-transfusion dependent thalassemia (NTDT) and transfusion dependent thalassemia (TDT). Based on these guidelines, several measures should be routinely implemented such as monitoring and surveillance of thalassemia related complications in order to early detect such complications for a proper clinical management. At present, there is no data in Thailand to show that how physicians are treating thalassemia patients especially on early detection of all complications and whether their real life practice has changed to follow those of both guidelines.ObjectivesTo evaluate the performance of routine care, in terms of surveillance for thalassemia related complications and their prevalence in adult thalassemia patients during 2 periods; before and after 2 CPG were published.MethodsIn this retrospective study, we analyzed data from 3,233 adult thalassemia patients who were diagnosed and treated at our clinics at Department of Medicine, Siriraj hospital during 1994-2017. We divided them into 2 groups; those who have been treated and followed-up for 3 consecutive years during 2012-2014 and 2015-2017 (a period before and after the implement of CPG, respectively). Clinical data and laboratory results were collected. Complications were recorded including iron overload (IOL) (ferritin), transaminitis (ALT >3x upper normal limit), diabetes mellitus (DM) or impaired fasting glucose (IFG)(fasting blood sugar), hypothyroidism (thyroid function test), low morning cortisol, vitamin D abnormality, viral infection (hepatitis B and C), osteopenia/osteoporosis (bone mineral density, BMD) and gallstones (ultrasonography or CT scan). To compare the performance of routine care from different treating physician groups, patients were categorized into 3 groups; those who attended thalassemia clinic (Thal) treated by mainly staffs and residents in hematology, those in private hematology clinic (Private) treated by mainly attending hematology staffs and residents in hematology, and those in internal medicine clinic (Non-hem) treated by internists and GP. Prevalence and surveillance rates for each complication between groups were analyzed by Independent t test (Chi-square or Fisher's exact test). This study was approved by local ethical committee.ResultsTotal available 459 NTDT and 65 TDT adult patients were studied. Baseline characteristics were shown in Table 1. Three most common complications were osteopenia/osteoporosis (69.8%), gallstones (67.6%) and abnormal vitamin D level (67.6%). IOL is a complication that has been widely evaluated in all treatment groups (93.1%) followed by evaluation of liver function test (82.3%). However the rate of evaluation for other complications were significantly reduced and <25% of patients were evaluated in several complications. This result suggests that the prevalence of thalassemia related complications might be underestimate the true prevalence and early detection of thalassemia related complications is still lacking.To test whether the implement of CPG has any impact on real-life clinical practice, we found that the rate of complication surveillance has increased significantly for several endocrine complications (DM/IFG, hypothyroid, adrenal insufficiency and low vitamin D) only in the group of patients treated at thalassemia clinic but not in others (Figure1). This suggested that CPG have yet to be implemented by those physicians and further endorsement is highly required.ConclusionThis study was the first study that evaluated the real-world practical management of thalassemia patient in terms of complication surveillance. In our adult thalassemia population, thalassemia related complications were not uncommon and some occurred early in adulthood. Surveillance rates of these complications were low in all clinics. After implement of thalassemia CPG, the surveillance rates for complications were increased only in patients treated at thalassemia clinic but not in other two clinics. A two different standard of clinical practice even within the same tertiary care hospital such as Siriraj hospital has called for an immediate policy change to improve and standardize a care for thalassemia patients in Thailand. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Increased Iron in Pediatric β-Thalassaemia Major Associates with CD3+, Not γδ Lymphocytes

Iron in β-thalassaemia major can act as a double-edged sword. Inefficient erythropoiesis and repeated blood transfusion therapy undertaken by these patients contribute to accumulation of iron, where at the cellular level may cause danger since the rising rate of iron in its free form was very toxic to the cells and tissues. Severe infectious disease is the 2nd major cause of death in children with this genetic inheritance disease. Such a complication can be happened when impaired immune cells, burdened with siderophilic bacterial infection which still prevalence in Indonesia, can make β-thalassaemia major susceptible to the pathogen invasion. The γδ T cells and their Vδ2+ subset functioned as innate and adaptive immune also specifically recognizes pathogen. The purpose of this study was to characterize γδ T cells and Vδ2+ subset also investigate the correlation between iron level and percentage of lymphocyte, CD3+ T cells, γδ T cells, and Vδ2+ subset then expression of T-cell receptors, they are CD3 and γδ in pediatric β-thalassaemia major. Flow cytometry was used to characterized and measure the cells parameters. Cross sectional study was done involving 51 pediatric β-Thalassaemia major patients who visit thalassemia clinic. Respectively, there was significant positive correlation between increased serum iron and ferritin level and number of lymphocyte (r = 0.15, P = 0.005) also between number of CD3+ T cells subset and ferritin level (r = 0.42, P = 0.002). In conclusion, iron overload is related to alteration of lymphocyte population and CD3+ T cells subset in pediatric β-thalassaemia major patients.Keywords: Iron, lymphocyte, γδ T cell, Vδ2+ T cell, thalassemia

The Impact of Educational Counseling Program on Quality of Life of Thalassemia Patients

Background: Thalassemia is the mostcommonhereditary disease. The presence of many physical and psychological problems can affect the quality of life of patients with thalassemia. The present study aimed at evaluating the effect of educational counseling program on the quality of life of thalassemia patients in city of Neyshabur in 2016. Methods: This semi-experimental study, which was conducted using pretest and posttest method, was done on 20 thalassemia patients, who referred to thalassemia clinic and were treated with educational counseling intervention. The participants were assigned into 5- member groups and received 5 sessions of training. After the sessions, 2 phone consultations were provided to the participants with a one- week gap, and the participants’ questions were answered. Sf-36 Quality of Life Questionnaire was completed before and 1 month after the intervention, and data were analyzed by independent t test, Pearson correlation coefficient, Spearman, Mann-Whitney, ANOVA, Kruskal-Wallis, and Wilcoxon tests using SPSS software Version 16. Results: The mean age of the patients was 23.06 � 10.87. The analysis of the test revealed that comparison of the mean before and after the educational counseling intervention in the physical and mental health subscales of SF-36 quality of life questionnaire was significant. Mean scores of quality of life in all dimensions were also significantly increased after the intervention (P < 0.05). However, this difference was not reported for limitation of the role of physical problems, general health, vitality, and cheerfulness (P < 0.05). Conclusions: According to the above results, it is suggested that educational counseling programs be used to improve the quality of life of patients with thalassemia.

T2* Magnetic Resonance Imaging Study of Pancreatic Iron Overload and its Relation With the Diabetic State in Thalassemic Patients.

The present study was performed to evaluate pancreatic hemosiderosis by means of magnetic resonance imaging (MRI) T2* and its relation to the diabetic state in thalassemic patients. One hundred thirty transfusion-dependent thalassemic patients from Zafar adult thalassemia clinic, Tehran, Iran, were enrolled in the study. Data such as age, type of thalassemia, age at diagnosis, transfusion duration, ferritin level, and fasting blood sugar results were gathered. Pancreatic MRI T2* was performed for all patients. One hundred four thalassemic patients with no sign of diabetes mellitus and 26 thalassemic patients with diabetes mellitus entered the study. Out of a total of 130 patients, 102 had pancreatic hemosiderosis. Among them, 23 of 26 diabetic patients (88.5%) and 79 of 104 nondiabetic patients (76%) showed pancreatic hemosiderosis, indicating no statistically significant difference between the 2 groups. The mean pancreatic MRI T2* relaxation time for all patients was 13.99±12.43 ms. The mean relaxation was 13.62±8.38 and 14.08±13.28 ms for diabetic and nondiabetic patients, respectively, showing no statistical difference (P=0.202). In conclusion, we did not find a significant difference between diabetic and nondiabetic thalassemic patients regarding the MRI T2* relaxation time readings or the rate of pancreatic hemosiderosis. We recommend performing studies with a higher sample size and including patients from different age groups to further evaluate the role of T2* MRI of pancreatic iron overload and its relation with the diabetic state in thalassemic patients.

Serum ferritin, serum nitric oxide, and cognitive function in pediatric thalassemia major

Background Hemolysis and repeated blood transfusions in children with thalassemia major cause iron overload in various organs, including the brain, and may lead to neurodegeneration. Hemolysis also causes decreased levels of nitric oxide, which serves as a volume transmitter and slow dynamic modulation, leading to cognitive impairment.Objective To assess for correlations between serum ferritin as well as nitric oxide levels and cognitive function in children with thalassemia major. Methods This analytical study with cross-sectional design on 40 hemosiderotic thalassemia major patients aged 6−14 years, was done at the Thalassemia Clinic in Dr. Hasan Sadikin Hospital, Bandung, West Java, from May to June 2015. Serum ferritin measurements were performed by an electrochemiluminescence immunoassay; serum nitric oxide was assayed by a colorimetric procedure based on Griess reaction; and cognitive function was assessed by the Wechsler Intelligence Scale for Children test. Statistical analysis was done using Spearman’s Rank correlation, with a significance value of 0.05.Results Abnormal values in verbal, performance, and full scale IQ were found in 35%, 57.5% and 57.5%, respectively. Serum nitric oxide level was significantly correlated with performance IQ (P=0.022), but not with verbal IQ (P=0.359) or full scale IQ (P=0.164). There were also no significant correlations between serum ferritin level and full scale, verbal, or performance IQ (P=0.377, 0.460, and 0.822, respectively).Conclusion Lower serum nitric oxide level is significantly correlated to lower cognitive function, specifically in the performance IQ category. However, serum ferritin level has no clear correlation with cognitive function.

Complementary and alternative medicine use in thalassemia patients in Shiraz, southern Iran: A cross-sectional study

This study aimed to determine the frequency and pattern of complementary and alternative medicine (CAM) use in thalassemia patients in south of Iran. The survey was done using a validated questionnaire which was distributed among 122 thalassemia patients. Only 108 questionnaires were completed and turned back (response rate 88.5%). Patients referred to an outpatient thalassemia clinic in Shiraz, southern Iran for blood transfusion. The mean age of the patients was 22.9 ± 7.9 years (range 4–45 years) with female/male ratio 1.84. Seventy four (68.5%) of the responders used CAM at least once during their life, and about half of them used it concurrently with their conventional treatments. The most reported CAM product was mint juice (50%). The most common reason of CAM use was increased general health. The most common information source about CAM was physicians who were the most trusted source as well. CAM is frequently being used in thalassemia patients to ensure their sense of well-being and help them overcome the complications of their illnesses.

Comparison of Quality of Life in Patients with β-Thalassemia Intermedia and β-Thalassemia Major in Southern Iran

Increased life expectancy in patients with β-thalassemia (β-thal) requires healthcare professionals to give greater attention to improving their quality of life (QoL). We aimed to evaluate health-related QoL (HRQoL) and its determinants in patients with β-thal intermedia (β-TI) compared with β-thal major (β-TM). In this cross sectional study, 118 patients with β-TI, referred to the Thalassemia Clinic of Shiraz University of Medical Sciences, Shiraz, Iran, were investigated by convenience sampling from January to June 2014 in southern Iran. A Short Form-36 (SF36) questionnaire was used. We had previously conducted a similar study in 101 patients with β-TM (12 to 38 years). Compared data of the two studies were analyzed. Mean age was 26.5 ± 6.5 (12 to 48) years in β-TI and 19.5 ± 4.4 (12–38) years in the β-TM group. The best scales of HRQoL were physical functionin (PF) (76.8 ± 26.6) and bodily pain (BP) (70.1 ± 24.8) in the β-TI group. Males had significantly better score only in vitality dimension compared to females (p = 0.020). Higher education (p = 0.023) in univariate analysis and age ≤20 years (B coefficient = 13, p = 0.008) in multivariate analysis showed significant relationships with higher total HRQoL score in β-TI. Comparison of β-TI and β-TM, after adjusting for covariates, total HRQoL was similar between the two groups. In evaluating the subscales, only PF showed a better condition in patients with β-TM [adjusted mean difference = 12.5, 95% confidence interval (95% CI): 5.6–19.3, p < 0.0001]. Contrary to our expectations, QoL in patients with β-TI were not better than β-TM. Training programs and psychosocial support of all patients with β-TI and β-TM as well as their care providers with more focus on older patients, females and the patients with lower educational degree should be taken into account.

BETA THALASSEMIA MAJOR;

Introduction: β-Thalassemia major (β-TM) is a genetic haemoglobin disorderwhich is relatively common in some geographical areas. β-TM is characterized by severe anaemia,which needs a continuous blood transfusion regimen starting from the first months of life toprolong survival. Objectives: To compare mean reduction in serum ferritin level with deferasiroxand desferrioxamine when used as an iron chelator in multi-transfused beta thalassemia major.Study design: Randomized controlled trial. Setting: Thalassemia clinic, The Children’s Hospitaland The Institute of Child Health, Lahore. Duration of Study with Dates: Study was carried outover a period of nine months from 28-06-2015 to 27-03-2016. Subjects and Methods: A totalof 100 patients (50 patients in each group). The patients were randomly allocated into twogroups using random numbers stable. Group-A received Deferasirox and group-B receivedDesferrioxamine. Results: Mean age of the patients was 7.42±4.13 and 7.87±4.13 in group-Aand B, respectively. Regarding sex distribution, 26 patients (52.0%) in group-A and 28 patients(56.0%) in group-B were male while 24 patients (48.0%) in group-A and 22 patients (44.0%) ingroup-B were female. Reduction from baseline in group-A was 783.60±413.66 ng/ml and ingroup-B 552.80±155.45 ng/ml (P&lt;0.001) There was more reduction in group-A. In group-Abaseline serum ferritin level was 2495.00±1259.10 ng/ml and at 9 month 1712.00±1019.36 ng/ml (P&lt;0.001). Similarly in group-B baseline serum ferritin level was 2422.80±910.43 ng/ml andat 9 month 1883±862.72 ng/ml (P&lt;0.001). Conclusion: In conclusion, deferasirox was moreeffective in terms of reduction in serum ferritin level when compared with desferrioxamine inmulti-transfused beta thalassemia major patients.

English

Introduction: β-Thalassemia major (β-TM) is a genetic haemoglobin disorderwhich is relatively common in some geographical areas. β-TM is characterized by severe anaemia,which needs a continuous blood transfusion regimen starting from the first months of life toprolong survival. Objectives: To compare mean reduction in serum ferritin level with deferasiroxand desferrioxamine when used as an iron chelator in multi-transfused beta thalassemia major.Study design: Randomized controlled trial. Setting: Thalassemia clinic, The Children’s Hospitaland The Institute of Child Health, Lahore. Duration of Study with Dates: Study was carried outover a period of nine months from 28-06-2015 to 27-03-2016. Subjects and Methods: A totalof 100 patients (50 patients in each group). The patients were randomly allocated into twogroups using random numbers stable. Group-A received Deferasirox and group-B receivedDesferrioxamine. Results: Mean age of the patients was 7.42±4.13 and 7.87±4.13 in group-Aand B, respectively. Regarding sex distribution, 26 patients (52.0%) in group-A and 28 patients(56.0%) in group-B were male while 24 patients (48.0%) in group-A and 22 patients (44.0%) ingroup-B were female. Reduction from baseline in group-A was 783.60±413.66 ng/ml and ingroup-B 552.80±155.45 ng/ml (P&lt;0.001) There was more reduction in group-A. In group-Abaseline serum ferritin level was 2495.00±1259.10 ng/ml and at 9 month 1712.00±1019.36 ng/ml (P&lt;0.001). Similarly in group-B baseline serum ferritin level was 2422.80±910.43 ng/ml andat 9 month 1883±862.72 ng/ml (P&lt;0.001). Conclusion: In conclusion, deferasirox was moreeffective in terms of reduction in serum ferritin level when compared with desferrioxamine inmulti-transfused beta thalassemia major patients.

Study of vitamin D status and bone age in children with Thalassemia major

Objectives: To study Vitamin D levels and bone age estimation in patients with thalassemia major and to correlate various factors associated with short stature, Vitamin D deficiency and bone age difference. Study Design: Prospective observational study Setting: Thalassemia clinic, Civil hospital, Ahmedabad Subjects and intervention: Total 84 patients with Beta-thalassemia major less than 12 years of age during 1 month period were included after taking informed consent. Study period: 15 October 2016 to 15 November 2016 Results: Out of 84 patients 34 patients had Vitamin D deficiency( 36 months had age>10 years. Vitamin D levels 2500(mcg/l)(OR=2.23 p=0.02 95%CI). Age>10 year(OR=7.7 P=0.0001 95%CI) and ferritin >2500mcg/l (OR=1.9 P=0.1 95%CI)are associated with bone age difference>36 months. Increased S.ALP(OR=1.1 P=0.02 95%CI) and ferritin levels>2500 mcg/l (OR:3.6 P=0.0056 95% CI )are associated with short stature. Conclusion: Vitamin D and calcium supplementation along with disciplined transfusion and chelation regimen can likely prevent or delay late complications like short stature, osteoporosis in thalassemia patients.

Human parvovirus B19 in patients with beta thalassemia major from Tehran, Iran.

BackgroundDue to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major attending the Zafar Adult Thalassemia Clinic in Tehran, Iran.MethodsThis cross-sectional study was performed to determine the presence of parvovirus B19 DNA in blood samples and parvovirus B19 genotypes in plasma samples of patients with thalassemia major. The population consisted of 150 patients with beta-thalassemia major who attended the Zafar clinic in Tehran. Specimens were studied using a real-time polymerase chain reaction assay.ResultsThe prevalence of parvovirus B19 in our study population was 4%. Of 150 patients with thalassemia, six (4%) were positive for B19 DNA. There was no significant correlation between blood transfusion frequency and B19 DNA positivity. Finally, phylogenetic analysis of human parvovirus B19 revealed genotype I in these six patients.ConclusionIn this study, acute B19 infections were detected in patients with beta thalassemia major. Screening of such high-risk groups can considerably reduce the incidence and prevalence of B19 infection; thus, screening is required for epidemiologic surveillance and disease-prevention measures.

The occurrence of pulmonary hypertension in patients with thalassemia major

Background The life of patients with thalassemia major dependson blood transfusions, while repeated blood transfusions may causeadverse effects such as iron deposition in various organs, includ-ing heart and lungs, which eventually increases the pulmonaryarterial pressure.Objective This study was proposed to know the occurrence ofpulmonary hypertension in patients with thalassemia major, mea-sured by echocardiography in the Thalassemia Clinic, Departmentof Child Health, Medical School, Padjadjaran University/HasanSadikin Hospital, Bandung.Methods A descriptive cross-sectional study was carried outon 30 patients with thalassemia major, aged 10-14 year-old whoreceived repeated blood transfusions. The study was conductedfrom April to May 2002. Subjects were examined right after ablood transfusion completed and the pulmonary arterial pres-sure was assessed using Doppler–echocardiography and 2-Dechocardiography.Results Twenty two out of 30 subjects showed pulmonary hyper-tension, with pulmonary arterial pressure ranged between 32.3 to46.2 mmHg. According to the age group, pulmonary hypertensionwas found in 12 out of 17 subjects aged 10-12 years old and 10out of 13 subjects aged 13-14 years old.Conclusion The occurrence of pulmonary hypertension in patientswith thalassemia major at Hasan Sadikin Hospital was 22/30 andseemed to increase with the age of the patients