Thalassemia Day Care Centre Research Articles

Serum Homocysteine Levels and Their Relationship With Serum Vitamin B12, Folate, and Ferritin Levels in Transfusion-Dependent Thalassemic Children.

The purpose of this study was to assess serum homocysteine levels and their relationship with serum vitamin B12, folate, and ferritin levels in transfusion-dependent thalassemic children. This study was proposed due to a paucity of literature regarding the status of homocysteine levels in thalassemic children and their relationship with the levels of vitamins and iron overload (serum ferritin values). A descriptive observational study was conducted on transfusion-dependent thalassemic children aged 1-18 years, who were registered at the Thalassemia Day Care Centre (TDCC), Umaid Hospital, Dr. SN Medical College, Jodhpur, over a period of six months. A total of 100 children were enrolled in the study, with a mean age of 8.89±4.50 years. The mean pre-transfusion hemoglobin level in the last six months was 8.23±1.02 gm/dL. The mean serum levels of homocysteine, vitamin B12, folic acid, and ferritin were 10.93±3.72 µmol/L, 164.03±80.54 pg/mL, 7.69±5.77 ng/mL, and 2175.78±1341.39 ng/mL, respectively. A statistically significant negative correlation was detected between serum vitamin B12 concentration and serum homocysteine concentration (r=-0.285, p=0.004). Statistically non-significant positive correlations were detected between serum folic acid and serum homocysteine levels (r=0.033, p=0.748) and between serum ferritin and serum homocysteine levels (r=0.179, p=0.075). A statistically significant negative correlation between serum homocysteine and vitamin B12 levels was noted, whereas statistically non-significant positive correlations were observed between serum homocysteine andserum folic acid levels and between serum homocysteine andserum ferritin levels.

COVID-19 pandemic and care of transfusion-dependent patients of thalassaemia: Experience from a paediatric centre in North India.

AimCovid‐19 has presented an unprecedented challenge to health services and has significantly affected the management of non‐Covid illnesses, like thalassemia. The present study documents the impact of Covid‐associated restrictions and disruptions on working of the pediatric thalassemia day care centre (TDCC), and measures taken by TDCC and blood transfusion services to adapt to and mitigate the negative impact of Covid pandemic and associated lockdown on patient care.MethodsPre‐transfusion haemoglobin and packed cell transfusion requirement were compared across three time periods, namely pre‐lockdown, lockdown and post‐lockdown in paediatric transfusion‐dependent thalassaemia (TDT) patients. Caregivers were interviewed to document any problems faced by them.ResultsThe study involved 181 TDT patients. There was a significant reduction in mean pre‐transfusion haemoglobin and red cells transfused during lockdown phase as compared to pre‐lockdown phase. Regular care was interrupted in 45% of patients and 76% of patients getting blood from outside could not get leukoreduced red cells. Investigations, monitoring and continuity of iron chelation were also affected. Blood centre faced 30.5% reduction in blood supply during lockdown. TDCC and blood centre took several steps, including prolongation of service hours and staggering of transfusions to ensure maximum transfusions while ensuring social distancing.ConclusionThe Covid‐19 pandemic imposed many unprecedented challenges to the routine care of thalassaemic patients; however, some of them could be dealt with by a proactive approach and micro‐planning at the institution level. Other similar resource‐limited settings could learn from experiences for continued quality care for chronic medical conditions during pandemic like situations.

Pubertal Development and its Determinants in Adolescents With Transfusion-Dependent Thalassemia

To assess pubertal development and its determinants in adolescents with transfusion-dependent thalassemia (TDT). In this cross-sectional study from a tertiary teaching hospital in Delhi, records of adolescents aged 17-19 years with TDT on regular transfusion at thalassemia day-care centre were reviewed. Pubertal development and its determinants were assessed. Records of 58 (33 male) adolescents with TDT were reviewed. Among them, 42 (72.4%) had normal/delayed onset with spontaneous progression of puberty, while 16 (27.6%) had pubertal arrest/failure and received hormonal replacement therapy (HRT). Short stature was observed in all adolescents on HRT. Amongst other endocrinopathies, only hypoparathyroidism was found to be significantly higher in the HRT group. On multivariate analysis, serum ferritin (OR-1.005, 95% CI 1.002, 1.009) was observed to be the only significant determinant of pubertal arrest/failure. A significant proportion of adolescents with TDT continue to have pubertal arrest/failure. High systemic iron load is the key determinant for this.

Wrist Joint Skeletal Changes in Children With Transfusion-dependent Thalassemia.

Arthropathies and bone deformities are well known to occur in patients with thalassemia major and have been attributed to the disease or to its therapy. Before the advent of chelation therapy, these children developed widened diploic space and "hair-on-end" pattern in skull, "cobweb" pattern in the pelvis, and the lack of the normal concave outline in the long bones because of extensive marrow proliferation. After the introduction of iron-chelation therapy, these patients were noted to develop metaphyseal abnormalities and vertebral changes resembling spondylo-metaphyseal dysplasia. Only one study has shown some association of deferiprone (chelating agent) use with distal ulnar changes in these children. Our study was done to describe the skeletal changes and deformities in wrist joints of children with transfusion-dependent thalassemia and correlate them with age, mean pretransfusion hemoglobin level, mean serum ferritin level, and type and duration of chelation therapy in these children. A total of 60 children with transfusion-dependent thalassemia from the thalassemia daycare center were examined. These children were divided into 3 groups on the basis of their age (group A: 2 to 6 y, group B: 6 to 10 y, and group C: 10 to 14 y). Detailed history, including treatment history, number of blood transfusions received over the last 1 year, clinical examination, and radiologic assessment of both forearm with wrists were done. The clinical and radiologic differences in radial and ulnar lengths increased significantly with the increasing age of these patients, the ulna being short. There was some correlation between increasing negative ulnar variance and distal radial articular angle with deferiprone consumption. Chelation therapy, particularly with deferiprone, may cause distal ulnar growth arrest causing ulnar shortening and progressive radial bowing in these children. Level IV-case series.

Knowledge, Attitude and Practices of Parents of Thalassemic Children in District Patiala, Punjab, India

Introduction: β-thalassemia is an autosomal recessive single gene disorder characterized by defective production of hemoglobin and excessive destruction of Red Blood Cells. The defect causes an abnormal development of Red Blood Cells and ultimately anemia. The cultural and religious scenario in Muslims, Khatris and Punjabis migrated from Pakistan is such that consanguineous marriages are quite common. There is no concept of premarital screening of counseling of individuals with a family history of disease. The only way to prevent the disease and to reduce the morbidity and mortality is by educating the general population. For this reason, present study was taken to evaluate the knowledge, attitude and practices of parents of Thalassemic children. Objectives: To assess the Knowledge, Attitude and Practices of Parents of Thalassemic Children. Methods: The study was conducted on parents of 100 patients of thalassemia who are coming regularly for blood transfusion in Thalassemia Day Care Centre (TDCC) run by Patiala Thalassemic Children Welfare Association (PTCWA) at Rajindra Hospital, Patiala to collect the relevant data for the study to evaluate the Knowledge, Attitude and Practices (KAP) of parents of thalassemic children. Results: Mean age of the patients was 8.36 years. 66% patients were males and 34% were females. 41% of the patients were from Khatri community and 59% were from other communities. Family history of thalassemia was present in 23% of the cases and history of consanguineous marriage was present in 4% of the cases. Seventy six percent of the parents knew about the prenatal diagnosis that could be performed to prevent the birth of thalassemic children. Knowledge regarding the treatment options available was found more in parents from Bania, Khatri and Kamboj communities. More positive attitude of parents towards prevention of thalassemia was found in parents who have answered 11-15 questions from Knowledge questionnaire. Conclusion: There should be a community based educational efforts to increase awareness of this problem especially to the people from low socioeconomic class and from rural area. Control of thalassemia requires treatment of the individual patients as well as a community based educational effort to increase the awareness of this problem.

Physical growth in children with transfusion-dependent thalassemia

correspondence: Harish K Pemde Department of Pediatrics, Lady Hardinge Medical college, Kalawati saran children’s Hospital, Bangla sahib Marg, new Delhi 110001, india Tel +91 11 23363432 Fax +91 11 23365792 email harishpemde@gmail.com Objective: To describe physical growth and related factors in transfusion-dependent thalassemia patients. Methods: This is a cross-sectional analysis of the records of the patients registered at and being followed up by the Thalassemia Day Care Center (TDCC) at Kalawati Saran Children’s Hospital, New Delhi, India. Clinical and laboratory parameters were recorded on a spreadsheet for analysis. Clinical parameters included weight, height, sexual maturity ratings, and general and systemic physical examination. Laboratory parameters included pretransfusion hemoglobin (Hb), periodic serum ferritin, and tests for viral markers of human immunodeficiency virus (HIV) and hepatitis B and C. Z-scores for weight, height, and body mass index (BMI) were calculated using World Health Organization reference data. Statistical analysis was carried out using Microsoft Excel and Stata software. Results: Out of 214 patients registered at the TDCC since 2001, 154 were included in this study. The mean age of patients was 9.19 years (range 0.5–20 years). Pretransfusion Hb was well maintained (mean 9.21 g/dL; 95% confidence interval [CI]: 9.06–9.36), but the mean serum ferritin levels were approximately three times (3112 ng/mL) the desired value despite the patients being on deferiprone (72%) or deferasirox (25%). One-third (33.11%) of the patients had short stature, 13% were thin, and 10.82% were very thin (BMI z-score ,-3). No patient was overweight or obese. Linear regression coefficient showed that for every 1-year increase in age, the mean ferritin value increased by 186.21 pg/mL (95% CI: 143.31–228.27). Height z-scores had significant correlation with mean ferritin levels, whereas correlation with mean pretransfusion Hb was not significant statistically. Mean ferritin levels were significantly higher in patients with short stature than in the patients with normal height. Regression analysis showed that an increase of 3571 units of serum ferritin was associated with a decrease of one point in height z-scores. One-fifth (19.40%) of adolescent patients had delayed puberty. Conclusion: Approximately one-third (33.11%) of patients with transfusion-dependent thalassemia major were of short stature. In this group of patients with pretransfusion Hb levels maintained at desired levels, physical growth was correlated with status of iron overload.