Ho/01(P) incidence of iron deficiency in non anaemic children

HO/41(O) ANXIETY, SELF-ESTEEM AND SOCIAL FUNCTIONING IN ADOLESCENTS WITH THALASSEMIA MAJOR

Anupam Sachdeva, Satya Yadav, Satinder Kaur Gujral, Ashum Gupta, VK Khanna, Roma Kumar

Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi

It has been established that it is important to provide a therapeutic strategy in Thalassemia major that includes not only medical but also psychological and social interventions from childhood to adulthood, the modalities and instruments of intervention and methods of evaluation and verification still have to be defined. In the present study an attempt has been made to compare thalassemic adolescents to that of healthy adolescents in the areas of psychological factors - anxiety, self-esteem and social functioning. In this study we prospectively studied 40 adolescents (age 13-19 years) of which 20 had thalassemia major and 20 were normal healthy adolescents. In order to compare the two groups on anxiety and self-esteem the t-test was used. A semi-structured interview was used to assess psychological factors. In order to find significant difference between two groups on this semi-structured interview, chi square test was used. The measure of anxiety in the present study is that of trait anxiety stable personality measure which is resistant to situational fluctuation. There was no difference between two groups in the present study on standardized measure of trait anxiety (tvalue 0.96). Most theoretical formulations have stressed that thalassemia can have effect on self-image. Specially, body changes and disruption of activities are seen as lowering the patient self worth however, no significant difference was found between two groups in present study on standardized measure of self-esteem. (t-value 0.70) In the social functioning the chi square test found a significant difference in the extent to which the two groups liked the school (p value <0.05) as 35% of thalassemics like the school a lot against only 10% of healthy. In leisure activity thalassemic adolescents were more sedentary type (p value <0.25). In daily functioning no significant difference was noted amongsts two groups. In illness issues the only question which revealed significant difference were that are you able to run as much as others(p value < 0.01) Thalassemic adolescents were not “able to run as much as others” and fell ill more often than the healthy adolescents. In regards to future 50% thalassemics hoped to be cured in future whereas 45% of healthy adolescents had responded to having friends as the future hope. In the views on employment prospects significant difference was found (p value <0.01) where 30 % of thalassemics were pessimistic and rest 70% optimistic whereas 100% of healthy adolescents were optimistic. In the field of marriage and parenthood majority of adolescents in each group anticipated marriage and parenthood. No significant difference was noted. In conclusion this study shows that, in general, the self-concepts of thalassemics were normal.
HO/42(P) GLUCOSE METABOLISM AND THE FACTORS AFFECTING IT, IN CHILDREN WITH THALASSEMIA MAJOR

Archana D. Arya, Anupam Sachdeva, VK Khanna, Subhash Arya, Satya Yadav

Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, Delhi,


In Thalassemia major children need to be frequently transfused. With each transfusion iron gets accumulated in the body. This excessive iron causes damage to all the organs in the body. This also affects the pancreas leading to abnormalities of the glucose metabolism in the body. The incidence of these abnormalities in the glucose metabolism increase with age and the peak age of incidence is between 16-20 years. The Indian (Asian) population is genetically predisposed to developing Type 2 Diabetes Mellitus, which is an additional risk factor for our Thalassemic population. Adding fuel to the fire is suboptimal chelation in most of the patients due to economic reasons and ignorance. Impaired glucose tolerance (IGT) usually antedates the development of frank diabetes mellitus. Intensive chelation in those with impaired glucose tolerance test may delay/prevent the onset of diabetes mellitus. Thus it is important to know the glyco-metabolic status of these children. We routinely perform glucose tolerance test (GTT) in all subjects with Thalassemia major who have not already developed diabetes to identify the “at risk” population. A baseline fasting sample for blood glucose is taken then oral glucose is given in a dose of 1.75mg/kgupto a maximum of 75 gms. Blood glucose level is measured 2 hours after oral glucose. According to the WHO criteria, Fasting plasma glucose between 110-126mg/dl is classified as impaired fasting and above 126mg/dl as diabetes. A 2-hours plasma glucose value between 140-200mg/dl is classified as impaired glucose tolerance and above 200 mg/dl as diabetes. The aims of this study were: To analyze the status of the glucose metabolism of children and young adults with Thalassemia major who were attending our Thalassemia endocrinology clinic. To compare the factors affecting subjects with an abnormal glucose metabolism with those who have a normal glucose etabolism. The parameters compared were: Effect of mean S. ferritin levels Effect of age of onset of chelation Genetic predisposition. Retrospective analysis of our case records was done to determine the prevalence of diabetes and impaired glucose tolerance in children and young adults between 13 and 25 years of age. Of the 33 subjects evaluated, 16 (48.5%) subjects had an abnormality of the glucose metabolism. 14/33 subjects (42.4%) had developed diabetes mellitus and 2 had an impaired GTT. Of the 16 affected subjects 9 were males and 7 were females (M:F::1.28:1). The mean serum ferritin for this group was 5464ng/ml, 5503ng/ml for the diabetic group and 5425 for those with impaired GTT. (2523-10904ng/ml). History of diabetes in a first or second degree relative was positive in 9 subjects (56.25%), negative in 2 and unknown in 5 subjects. Average age of onset of chelation was 8 years in this group. Oral glucose tolerance test was normal in 17/33(51.5%) subjects of which 10 were males and 7 were females (1.42:1). Average serum ferritin was 4747.4ng/ml in the group with a normal glucose tolerance. (1600-8294ng/ml). Family history of diabetes in a first or second degree relative was positive in 8 subjects (47%), negative in 4 and unknown in 5 subjects. Average age of onset of chelation was 6.5 years in the group with normal glucose etabolism. Conclusion: Of the 33 subjects evaluated, 48.5% had an abnormal glucose metabolism.
HO/43(O) HYPOPARATHYROIDISM IN THALASSEMIA MAJOR

Anupam Sachdeva, Archana D. Arya, Satya P. Yadav, VK Khanna, Subhash C. Arya

Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi

Endocrinopathies are frequently reported in children with Thalassemia major. The children at our centre are transfused regularly to maintain hemoglobin of at least 8-9 gm/dl. Most subjects are advised chelation with Desferrioxamine or Deferiprone or a combination of the two drugs, although a majority of children have poor compliance and are poorly chelated.

Hypoparathyroidism usually occurs in Thalassemia Major due to excess iron deposition in the Parathyroid glands. All patients suffering from Thalassemia Major are evaluated routinely for their bone metabolism. The fasting serum calcium, phosphorus, intact parathormone and alkaline phosphatase levels are checked annually to screen for hypoparathyroidism and Vitamin D deficiency. A diagnosis of hypoparathyroidism is made if the serum calcium is low, phosphorus is high, alkaline phosphatase level is normal and serum parathormone level (intact) is low-normal. Mean S.Ferritin levels of all the subjects were calculated by averaging the ferritin values over the last 5 years.
We analyzed the screening results for hypoparathyroidism in 110 subjects with Thalassemia Major between the ages of 10-25 years. Of these 110 subjects 19 (17.3%) were found to be suffering from hypoparathyroidism and 91 patients had a normal screen. Mean S. Ferritin level was 5997ng/ml in the affected subjects (ranging from 2900 to 10,904 ng/ml), compared with the mean S. Ferritin level of 3793ng/ml in the unaffected subjects, which was clinically significant, showing a direct correlation between the poor chelation and development of hypoparathyroidism. Only 2 subjects from our affected group had an average ferritin of 2000-3000 ng/ml, although they also had other endocrine disorders such as short stature and hypothyroidism.
Of the affected subjects, 9 were males and10 were females (M:F::1.1:1). The reported male: female ratio for hypoparathyroidism in thalassemics is 3:1. Age of onset of hypoparathyroidism ranged from 10.9 years to 23 years with mean age of onset being 16 years. The youngest subject (10.9 years) had an average Ferritin of 2908 ng/ml. All the affected subjects above 15 years of age had hypogonadism, 7 of the 19 affected subjects (36.84%) had diabetes, 4 (21%) of them had an abnormal glucose tolerance test, and 5 (26.3%) had hypothyroidism.
Conclusion: The incidence of hypoparathyroidism reported in our group of patients is higher compared to those reported from other continents (3.6-4.5%) probably due to poor chelation. Both males and females are equally affected and the age of onset is earlier compared to reports from other countries. This suggests that high ferritin levels due to poor chelation is a major factor in the development of hypoparathyroidism and most subjects who develop it, have multiple endocrine disorders.
HO/44(P) GENOTYPE PHENOTYPE CORRELATION IN THALASSEMIA SYNDROMES

Aditya Raina, Anupam Sachdeva, VK Khanna, Subhash C Arya, Satya Prakash Yadav, Ishwar Verma

Department of Pediatrics, Centre for Child Health, Sir Ganga Ram Hospital, New Delhi

Among the inherited disorders of blood, thalassemia constitutes a major bulk of genetic diseases in India. It causes a high degree of morbidity. In a study conducted in India it has been estimated that there is a frequency of 1:2700 at the time of birth. Thus on an average 9000 new thalassemics are born every year in India. The present study has been aimed at investigating the clinical and hematological spectrum in the above syndrome. It also assessed the prevalence of Xmn-1 polymorphism its relationship with various mutations and its role in modifying the clinical manifestations. The study was conducted on fifty patients representing 49 families and consisting of 33 males and 17 females who were homozygous for beta thalassemia and ranged in age from 3 months to 32 years. The patients were screened for common Indian mutations and their Xmn-1 polymorphism status and this was correlated with their clinical parameters. A positive correlation in presence of Xmn-1 polymorphism and IVS1-1 mutation was noted. There was also a correlation between age at diagnosis and also the age at first transfusion. There was a correlation between Xmn polymorphism and IVS1-1 mutation. This was found most commonly in the Punjabi Khatri community. None of the patients with blood group O had positivity of Xmn polymorphism. There was no correlation between Xmn-1 and hemoglobin at diagnosis, HbF at diagnosis, MCV at diagnosis, amount of blood in mL/Kg/year and sex and religion.

HO/45(O) DETECTION OF HEMOGLOBINOPATHY IN PEDIATRIC PATIENTS BY CELLULOSE ACETATE ELECTROPHORESIS (CAE)

Bhawna Bhimte, Farah Khan, A. V. Bopche, Sneh Shukla, Rashmi Dwivedi, B. K. Agrawal.

Objective: - Present study aimed to find incidence of Hemoglobinopathies among severe anemic patients by studying their complete blood hemogram and performing CAE. Spectrum of Hemoglobinopathies, their prevalence, socio-economic status and demographic profile of affected patients were also studied. Material and Method: - 100 severe anemic patients of 0-5 yrs. were studied. Their pre BT (blood transfusion) samples were collected and CAE was performed at 7.4 pH and complete blood hemogram tests were also done. Result: - Out of 100 patients 40% were detected to be positive for different Hemoglobinopathies. Out of them 82.5% (33) were of β⁰ β⁰ Thalassemia (major), 10% (04) were of sickel cell anemia while 5% and 2.5% were of β⁰ β⁺ Thalassemia (minor) and sickel cell trait respectively. Of these 40% patients 20% were Sindhi, 17.5% Muslims, 12.5%Thakurs, 7.5% were of Mahar communities. Conclusion: - CAE has been proved to be effective in terms of primary diagnostic tool due to its simple technique and reliability. Thalassemia was found to be prevalent among Sindhi community while Sickel cell anemia was prevalent in Mahar community.
HO/46(P) CT AND MRI FINDINGS AND THEIR CORRELATION TO IQ IN PATIENTS TREATED WITH HIGH DOSE METHOTREXATE FOR CNS PROPHYLAXIS IN ALL & NHL

Indu Jain, Anupam Sachdeva, Vinita Jain, SC Arya, PK Pruthi, Suresh Gupta, Roma Kumar, LN Srivastava, SP Yadav

HDMTX has been found to be as efficacious as radiotherapy eliminate the need for cranial radiotherapy. The study was done to determine the incidence of CNS toxicity following HDMTX (in doses of 6-8g/sq.m) in Indian children treated for ALL & NHL. Methodolgy:CT Scans, MRI and IQ assessment were done before, 3 months and 6 months after in children given HDMTX (Dose of 6-8 gm/mt²) as a part of UKALL XI protocol and 1 year after stopping treatment Results: 49 children with ALL & NHL between the age group 0-18 years with mean age 5.8 years (range 2 to 13 years) were enrolled in the study. In our study group there were more boys than girls (Ratio was 1.8:1). Majority (80 %) of children enrolled had ALL rest had NHL Each patient received 3 doses of HDMTX (followed by intrathecal methotrexate) with folinic acid rescue; one patient did not receive the third dose of high-dose methotrexate. Headache was a less common feature, seen in only 2% patients. The overall incidence was 0.7 %. In the study group one patient had acute seizure episode after the second dose of methotrexate (2 %). Focal neurological deficit was observed in one patient. The child developed paraparesis after the third dose of high dose methotrexate (followed by intrathecal methotrexate). The CT and MRI showed abnormality only in one case, which had paraparesis. Even the child who had seizures did not show any changes. The IQ was affected in two children. One had specific learning disability (had received radiotherapy) and another had a fall in the IQ. There were no correlative CT MR findings. Conclusions: Chronic toxicity was seen in 6.1% of cases 3/49. Neurotoxicity (acute + chronic) was observed in 5/49 = 10.2% cases.