Results: Out of total 55 children 31 (56.4%) children were of female sex and 48(87.3%) were Hindu by religion. The mean rate of blood transfusion was 157.02±21.33 ml/kg/year with average dose and duration of iron chelation with Desferroxamine was 34.4±26.86 mg/kg /day and 2.34±1.86 years respectively. Mean cholesterol level, high density lipoprotein (HDL), low density lipoprotein (LDL) levels were on lower side of the range with values of 124.47±19.81 mg/dl, 36.58±12.22 mg/dl, 63.94±4.57 mg/dl respectively. The mean triglyceride level (TG) was on higher side with an average of 142.93±33.7 mg/dl. The average serumferritin levels were 2130.33±859.85 ng/ml. There was negative correlation of total cholesterol, HDL, LDL with serumferritin with coefficient of correlation (r= -0.77, -0.55, -0.72) respectively. The serum triglyceride had positive correlation with serumferritin with coefficient of correlation(r=+0.85).
Our study revealed that there were positive correlations between serum TSH and serumferritin while TSH had no relation with serum iron. Serumferritin also possessed positive correlation with serum iron. Serum fT3 and fT4 had no relation with serumferritin, iron. And also revealed that subclinical hypothyroidism was more than overt hypothyroidism among β-thalassemiamajor patients and female patients affected much in hypothyroidism than the males. Thalassemia possesses a huge social and economic burden to the country. So, there should be a target for reducing this huge burden of the society.
Myocardial performance index (MPI) and isovolumic relaxation time (IVRT) have been observed to increase in β thalassemic children compared with normal control subjects. Measurement of MPI and IVRT have been reported to be simple and useful in early detection of left ventricular( LV) dysfunction in asymptomatic children in an early reversible stage of the disease when iron overload has not yet caused systolic dysfunction. 5 There are reports of many unexplained cardiac deaths in βThalassemiamajor patients were found even though they had low serumferritin levels emphasizing the unreliable use of serumferritin as a predictor for iron overload cardiomyopathy in βThalassemiamajor patients. 6 Hence, we undertook study to correlate serumferritin and MPI, IVRT, isovolumic contraction time (IVCT) and ejection time (ET).
Seven patients, all from the TM group, had hypothyroidism (4 central and 3 subclinical type). There was significant correlation between serumferritin and BMD Z-Score in radius area (P=0.04), but not in other sites. BMD Z-Score of spine, radius, and femoral neck were lower than normal in both types of thalassemia and in both genders. However, it was significantly lower in TM and male gender at the radius area (P=0.048) (table 4). There was no significant difference in BMD Z-Score between males and females in TI. In TM, BMD Z-Score was significantly lower in males than females at spine and radius areas (P< 0.001), but in femoral neck it was significantly lower in females (P=0.05) (table 4). BMD Z-Score was even lower in younger children showing a negative correlation with age (P < 0.001) (table 3, figures 1-3). The youngest child with osteoporosis was 4 years old.
Data characteristic samples showed that of 49 patients, there were 43 patients who had high serumferritin, and 6 patients had nor- mal serumferritin. The majority of patients with high serumferritin is in accordance with several previous studies which showed that patients with B-Thalassemia have higher se- rum ferritin than healthy people (Attia et al., 2011; Karim et al., 2016;). There are 6 res- pondents who have normal serumferritin suspected to be caused by blood transfusion factor itself, as described in a study (Taher and Saliba, 2017). First, it is possible that patients who have low serumferritin are transfused-dependent thalassemia patients, but have not been transfused for a long time, giving the body time to excrete ferritin. Se- condly, it is possible that there are patients who have a profile as thalassemia patients
This cross-sectional study was performed in pediatric cardiology department of Arak University of Medical Sciences during 2015-2016. The protocol was approved by the local Research Ethics Committee of our center. Fifty patients suffering from β-TM and 50 healthy subjects, matched for age and sex entered into the study. There were 23 women and 27 men (range 5-40 years) with β-TM. All patients with thalassemia were receiving blood transfusion regularly in 3-4 week intervals to have hemoglobin level of 9 g/dl or higher. Iron chelation therapy included deferiprone (DFP), deferrioxamine (DFO) or both according to hematology department guidelines. All subjects were precisely evaluated for any remarkable medical history other than thalassemia, physical examination, annual mean serumferritin levels, ECG and echocardiographic measurements. Exclusion criteria consisted of presence of cardiac arrhythmia, atrioventricular conduction abnormalities, previous AF episodes, anti-arrhythmic therapy, blood pressure >140/90 mmHg, systolic dysfunction, presence of valvar heart, thyroid, renal and hepatic disease, and diabetes mellitus. Serumferritin levels were measured monthly for 12 months. Measurement of serumferritin was performed by sandwich enzyme- linked immunosorbent assay (ELISA).
Mainstay of treatment of severe β-thalassemia is regular blood transfusions. Blood transfusion is mandatory for children with thalassemiamajor and thalassemia intermedia who cannot maintain Hb above 7gm/dl, or those who show evidence of growth retardation and hyperspleenism. Complications secondary to transfusional iron overload can be prevented by adequate iron chelation with desferrioxamine, deferiprone and deferasirox over last 3 decades development of regular blood transfusion therapy and iron chelation has dramatically improved the quality of life. Hydroxyurea is an oral agent widely used in the treatment of myeloproliferative disorders with a good safety profile. Hydroxyurea was first used in a number of small scale non-randomized clinical studies that confirmed its HbF inducing activity in sickle cell disease. Present study was to evaluate the role of Hydroxyurea in β-thalassemiamajor patients in already resource constrained settings. METHODS
With present study authors conclude that deferasirox 30mg/kg/day significantly reduces serumferritin and well tolerated in majority of patients with thalassemiamajor having daily transfusional iron intake of 0.3- 0.4mg/kg/day where as 20mg/kg/day is required in patients having low transfusional iron intake. A significant positive correlation of TIL with the average dose of deferasirox and negative correlation of TIL with the mean reduction in serumferritin level signifies that TIL should be monitored on an ongoing basis while deciding starting dose and subsequent dose adjustment during course of iron chelation therapy in thalassemic patients.
Serumferritin levels are elevated in all children in the present study with median value of 3136.28 ±1761.44. in a study conducted in HongKong in 2002 , the mean ferritin level was found to be 5140pmolL. In general the body iron stores have been found to correlate with serumferritin levels. However being an acute phase reactant single values of serumferritin are not always not reliable. Despite serial measurements remains the simple and reliable method to evaluate the iron deposition and efficiency of chelation therapy. In order to evaluate clinical relevance, need for treatment, and timing and monitoring of chelation therapy, iron status should be assessed accurately.
There are several methods to measure iron levels in different organs. Liver disease and inflammatory responses can increase amount of serumferritin, so its measurement is not very reliable. Liver biopsy is the gold standard method to measure iron level but it is invasive and cannot predict iron level of the heart. Echocardiography is another method, which is only reliable in advanced iron overloading. In the present study, T2*MRI was used for to measurement of iron levels in the heart and liver. It’s found that cardiac T2*MRI is associated with the mean of age. Moreover, the result showed that younger patients had higher levels of hepatic T2*MRI. Shamsian’s study showed that there was a direct association between cardiac T2*MRI and mean of age. However, two similar studies proved a reverse association between T2*MRI and mean of age (17). Surekha Tony and colleague could not show a significant association between cardiac T2*MRI and serumferritin(18). In concert with these observations, Alberto et al demonstrated that measurement of serumferritin did not have a prognostic value (19). In our study, correlation between age and cardiac T2*MRI was direct which can be caused by sensitivity of T2*MRI in detecting cardiac ironload. In study of shamsian and et al in mofid children`s hospital in 2011, similar results were obtained but opposite results were seen in Perifanis study in 2007 (17). In our study correlation between age and hepatic T2*MRI was reverse. These results were matched with chiristoforidis study in Greece (20). This study reported that hepatic T2*MRI had strong correlation with serumferritin and could be used to estimate iron levels of the body.
Background: Adrenal and parathyroid insufficiency are uncommon in patients with transfusion dependent Beta Tha- lassemia (β-TM). Further, myocardial echocardiographic abnormalities are recognized but with a variable outcomes Aim: The aim is to determine the prevalence of adrenal and parathyroid insufficiency in patient with transfusion de- pendent β-TM. And to assess left ventricle systolic and diastolic function using Pulsed Doppler (PD) and Tissue Dop- pler (DT) echocardiogram. Methods: The study was conducted on patients with β-TM (n = 99, age 15.92 ± 8.92 years) and compared with an age-matched controls (n = 98 age 15.79 ± 8.94 years). In all participants echocardiographic indi- ces of M mode and PD and TD were performed. Blood samples were withdrawn for measuring the serum cortisol, parathyroid and Ferritin. Correlation between the level of cortisol and ferritin level was evaluated. Results: Patients with β-TM compared with controls, had significantly thicker LV septal wall index of 0.65 ± 0.26 vs 0.44 ± 0.2190, p < 0.001 and LV posterior wall of 0.65 ± 0.235 vs 0.43 ± 0.214, p < 0.001, with no significant dilation of LV cavity in systole and diastole. The systolic function of LVFE% was normal of 51.95 ∓ 5.5 vs 5.0 ∓ 5.6, p = 0.23. Furthermore patients with β-TM had higher E/A ratio (1.54 ± 0.18 vs 1.23 ± 0.17, p < 0.01) and shorter deceleration time (DT) (170.53 ± 13.3 vs 210.50 ± 19.20 m sec, p < 0.01). The ratio of transmitral E wave velocity to the tissue Doppler E wave at the basal septal mitral annulus (E/Em) was significantly higher in β-TM group (19.68 ± 2.81 vs 13.86 ± 1.41, p < 0.05). The tissue Doppler systolic wave (Sm) velocity and the early diastolic wave (Em) were significantly lower in β-TM group compared with controls with Sm, of 4.82 ± 1.2 vs 6.22 ± 2.1 cm/sec, p < 0.05 and (Em) of 3.51 ± 2.7 vs 4.12 ± 2.5 cm/sec p < 0.05, respectively). The tricuspid valve velocity was significantly higher in β-TM patients com- pared with controls (2.85 ± 0.56 vs 1.743 ± 0.47 m/sec, respectively, p < 0.01). The prevalence of adrenal insufficiency in patients with β-TM was 16%, hypoparathyroidism of 4.5% weak negative correlation between serum level of cortisol and the serumFerritin. Conclusion: Patients with β-thalassemiamajor had a high prevalence of subclinical adrenal in- sufficiency of 16%, hypoparathyroidism of 4.5% with weak negative correlation between the low level of cortisol ≤160 nmol/L and high serumferritin. Echocardiographic Pulsed Doppler showed a restrictive LV diastolic pattern suggestive of advanced diastolic dysfunction but preserved left ventricle systolic function.
Background: Iron overload in association with persistent anemia is responsi- ble for endocrine dysfunction in β -thalassemia patients, blood transfusion com- bined with iron-chelation can modify life quality in these children, but they tend to suffer from delayed maturity and endocrine dysfunction. Aim: This study aims to correlate degree of hypogonadism to ferritin load in regular transfused β -thalassemia patients. Methods: It was carried out on 30 β -tha- lassemia major (TM) patients aged 12 to 18 years, puberty was assessed clini- cally, blood picture on Cell-Dyne 2700, ferritin level and pattern of FSH, LH, testosterone and estradiol before and after gonadotropin (GnRH) analogue stimulation test, they were determined on ARCHITECT ABBOTT system. Re- sults: Twenty patients had not yet achieved puberty, FSH level was 1.45 ± 1.88 mIU/ml before (GnRH) analogue and 3.78 ± 4.19 mIU/ml after 4 hours of in- jection. LH level was 1.91 ± 4.79 mIU/ml before (GnRH) test, while after 4 hours it was 6.52 ± 7.50 mIU/ml, 88.24% of males had low serum testosterone level, 84.6% of girls had low serum estradiol level, FSH, LH, estradiol, testos- terone before and after GNRH analogue were statistically insignificant, mean ferritin level was 3344.32 ± 1142.142 ng/ml, with insignificant correlation to hormonal pattern before and after GnRH therapy. Conclusion: Iron overload and hypogonadism are the presenting data in this study, insignificant correla- tion between ferritin level and hormonal reserve pattern, there may be ano- ther etiology in pathophysiology of low gonadal reserve such as severe ane- mia, chronic disease and may be genetic predisposition underlying suscepti- bility to iron toxicity, which need further investigations.
have a huge clinical significance for measurement of body iron storage (Porter, 2001). In β– thalassemiamajor patients, mean value of serumferritin was found to be 4098.67 ± 1598.63 ng/ml, least level was 1212ng/ml and highest was 7560ng/ml (Sultana et al., 2011). Inβ-homozygousthalassemia patients, the mean value of serum ferritinwas 281.8 ± 219.9 µg/L (Anil et al., 1985). In Bhopal, India it was found that mean serumferritin level was 2767.52(SD 1849.1) ng/ml. Only 12.5% patients had serumferritin value lower than 1000 ng/ml, 44.4% patients’ serumferritin level was between 1000-2500 ng/ml,whereas 43.05% patients had serumferritin values more than 2500 ng/ml(Amit and Archana, 2013).In case of β– thalassemia trait females, the mean level of serumferritin was 97.9µg/L and in normal adult females, it was 55.9 µg/L(Sonay et al., 1976). In our study, we estimated the serumlipidprofile as well asferritin concentrationin β– thalassemia traitpatients of DakshinaKannada and Kodagu population, Karnataka, and compared those values with healthy controlsto check for the cardiovascular risk factors in these patients.
Major beta thalassemia (MBT) is a hereditary disease which synthesies defects in beta chains of haemoglobin, it is causes red blood cell destruction and the symptoms of anemia. Red blood cell destruction, frequent blood transfu- sion and low adherence to routine use of iron chelator lead to iron accumulation in the heart, liver and endocrine organs. Accumulation of iron in the myocard can lead acute myocardial infarction. One of cardiac markers that had been used for the diagnosis of myocardial infarction was cardiac troponin I (cTnI). The aim of this research is find the correlation between serumferritin levels and cTnI in MBT children. A descriptive analytic research was conducted using a cross sectional design. The subjects were divided into 2 groups, the MBT group and the control group. In both groups, the serumferritin and cTnI levels ere evaluated. Data were analyzed using t-test and Pear- son correlation test. Eleven children in the MBT group and 11 children in the control group were involved in this study. In the MBT group, the mean of serumferritin and cTnI levels were 4292.5 µg/L and 0.20 ng/mL respec- tively. The mean of serumferritin levels in the MBT group were higher than in the control and statistically signifi- cant (p= 0.0004). The mean of serumferritin levels in the MBT group were higher than in the control and statisti- cally significant (p= 0.0004). The mean of serum cTnI in the MBT group were higher than in the control, but sta - tistically not significant (p= 0.82). In the MBT group, there was a weak corellation between serumferritin and cTnI levels (r= 0.34).
22 normal controls). The iron load was determined for the first two groups by biochemical determination of liver iron concentration (performed in all but 12 subjects in the chronic liver disease group) and hepatic histologic grading. The main results for liver attenuation (upper normal limit, 72 Hounsfield units) showed that despite a high specificity (0.96), this parameter was of low sensitivity (0.63). Although mean liver attenuation in idiopathic hemochromatosis (77 +/- 14) was significantly higher than in chronic liver diseases (53 +/- 17; p less than 10(-4) and normal controls (66 +/- 3; p less than 10(-3], and despite an overall good correlation between liver attenuation and liver iron concentration (r = 0.72; p less than 10(-3], liver attenuation was unable to detect moderate iron overload. Fourteen of 18 patients with a liver iron concentration of less than 150 µmol/g dry liver wt had liver attenuation values of less than 72. Moreover, 3 of 18 subjects with a liver iron concentration of greater than 150 had a liver attenuation of less than 72. Of these 17 false-negatives, only 7 could be attributed to associated steatosis. On the whole, single-energy computed tomography, when used on a routine basis for diagnosing iron overload, is of limited clinical value in idiopathic hemochromatosis due to its poor sensitivity. Hepatic histologic examination together with biochemical determination remains the most accurate means to assess liver iron.
Thalassemia was recognized as a clinical entity by Cooley and Lee. Thomas B. Cooley (1927), a pioneer pediatrician, reported seven cases of splenomegaly with anemia, peculiar bone changes, and characteristic facies . Originally de- scribed as a separate disease entity, this disease is now known as Cooley ’ s anemia or β -thalassemiamajor. The term “ thalassemia ” refers to a group of blood disorders characterized by decreased synthesis of one of the two types of polypeptide chain ( α or β ) which form the normal adult hemoglobin molecule (HbA, α 2 β 2 ), resulting in decreased
This case-control study was conducted in Mashhad city during two years. The study concluded fifty BTM patients who had referred to Sarvar polyclinic center, (thalassemia and hemophilia center in Mashhad city) for transfusion. Fifty other healthy individuals matched in terms of age and sex who lacked clinical and laboratory findings of thalassemia disorders as well as bone disease and lesions were included as the control group; they were checked by a physician at the entrance to the study. Minimum age of thalassemic patients was 15 years. After sampling the cases by an expert laboratory technologist, blood samples were kept in sterile tubes for 30 min. at room temperature until the blood turned clot; then
5-Cooley TB, Lee P: A series of cases of splenomegaly in children with anemia and peculiar changes. Trans Am Pediatr Soc 1925, 37:29-30. 6-Saka N, Sukur M, Bundak R, Anak S, Neyzi O, gedikoglu G: Growth and puberty in thalassemiamajor. J Pediatr Endocrinol Metab 1995, 8:181-186. 7-Modell B, Letsky EA, Flynn DM, Peto R, Weatherall DJ: Survival and desferrioxamine in thalassemiamajor. BMJ 1982, 284:1081-1084. 8-Jensen CE, Tuck SM, Agnew JE, Koneru S, Morris RW, Morris RW, et al. High prevalence of low bone mass in thalassaemia major. B J Haemat 1998, 103:911-915.
Demographic data including age and gender (maternal characteristics), number of blood transfusions and duration of chelation were recorded by taking thorough history from parents or patients’ guardians and from patients’ medical records. Blood samples for accessing the zinc levels were collected prior to blood transfusion under aseptic conditions. To perform this 5cc of peripheral venous blood in sodium heparin bottle was taken from the patient and zinc levels were assessed using an atomic absorption spectrophotometry. The defined reference value for zinc was 50-150 µg/dl, zinc deficiency was defined zinc serum level of <50µg/dl.
Their results were explained by endocrinopathies secondary to iron overload. Endocrinopathies resulting in biochemical imbalance are common with advancing age in children with beta thalassemiamajor. In the present study mean calcium level was 9.03±0.83 mg/dl. This value falls within the normal range for age, but it was significantly lesser than the controls. Fahim et al and Vernejoul et al, in their studies found no significant difference in Calcium levels between study and control groups. 10,16