[en] To explore the relationship between psychopathological tendencies and Quality of Life (QoL) among patients with Thalassemia major. Methodology: In this correlational study, data were collected from the blood transfusion dependent patients of beta-thalassemia major in Rawalpindi and Islamabad hospitals from September to December 2014. Urdu version of Worlds Health Organization Quality of Life Scale-BREF (WHOQOL-BREF) and Brief Symptom Inventory (BSI) methods were administered on 74 patients of thalassemia major. Pearson Product Correlation, Independent Sample t-test, One-way ANOVA and Post Hoc analysis were used. Results: There was higher levels of somatization, hostility and obsessive compulsive (OC) and lower levels of psychoticism. There was negatively affected social and psychological domains of life while comparatively better QoL related to environmental conditions of the patients. There was negative relationship between psychopathological tendencies and QoL among patients. Moreover, mother's education level negatively related with psychopathological tendencies among patients. Males scored high on depression and interpersonal sensitivity, whereas females scored high on anxiety, paranoid ideation and somatization. Female patients experienced better QoL as compared to male counterparts. Conclusion: There were higher degrees of psychopathological tendencies among patients with thalassemia major which affected their QoL mainly on social and psychological domains. (author)

[en] To evaluate the presence of intrinsic factor antibody in vitamin B12 deficient patients. Study Design: Cross-sectional, observational study. Place and Duration of Study: Fauji Foundation Hospital, Foundation University Medical College and Armed Forces Institute of Pathology, Rawalpindi, from January 2011 to June 2012. Methodology: A total of 120 patients of megaloblastic anaemia were selected on the basis of low serum vitamin B12 level. The intrinsic factor antibody tests were performed by ELISA method. The patients were considered positive or negative on the basis of presence or absence of intrinsic factor antibody respectively. The data was analyzed by using SPSS version 14. Results: Pernicious anaemia with intrinsic factor deficiency was found in 13.3% in 120 vitamin B12 deficient patients. The mean age of patients of pernicious anaemia was 41.5 years, with a male to female ratio of 1:2.5. It was relatively more common in older age (17% in age more than 60 years) as compared to other age groups. Conclusion: Frequency of pernicious anaemia in megaloblastic anaemia was 13.3%. The male to female ratio was 1:2.5 and it was relatively more common in age group of more than 60 years. (author)

[en] To study the ethnic and geographic distribution of Beta-thalassemia amongst the patients included and to study the effect of consanguinity in promoting this disease. Also, to establish the safety of CVS when used as a pre-natal diagnostic tool in aiding the early diagnosis of Beta-thalassemia in selected patients. Study Design: Descriptive Study. Place and Duration of Study: PNS Shifa Karachi, from Jan 2008 to Dec 2008. Patients and Methods: A total of 223 women out of 240 that were referred from all over Sindh to PNS Shifa Hospital Karachi for susceptible gene mutations participated in the study. The standard procedure that was used in this study was trans-abdominal aspiration of chorionic villi through suction needle. The samples were then sent for further analysis to the Pathology Department at PNS Shifa Hospital Karachi. Results: In our study population Beta-thalassemia was most prevalent in Sindhi 107 (48%) followed by Punjabi 46 (21%), 27 (12%) Pathan, and 43 (19%) Balochi. Out of 223 women, 95 were of thalassemia trait, while 85 were of thalassemia major. Fifty five percent of thalassemia trait and 56% of thalassemia major fetus parents were first cousins. The rate of pregnancy loss after performing CVS was 2.0% with no complications reported. Conclusion: It is concluded that highest percentage of thalassemia is in first cousins and sindhi origin families are mostly affected. However CVS is a safe and effective tool for prenatal diagnosis and subsequent counselling in selected couples. (author)

[en] To find the perceived stress level and monetary burden in the thalassemia patients and their caregivers related to thalassemia treatment sessions. Methods: A descriptive cross sectional study was conducted at Rawalpindi Thalassemia Centre and Military Hospital Rawalpindi of six months’ duration from November 2016 to April 2017. A total of 87 sample size was calculated by using WHO sample size calculator. Participants were inducted through purposive sampling technique from thalassemia centers. A validated standardized Cohen’s Perceived Stress score was used. Data were entered and analyzed in SPSS 22. Results: Mean age of the participants was 30.42 ± 14.53 years. There were 30 (34.2%) males and 57 (65.8%) females. There were 39 (51.3%) patients and 48 (48.7%) caregivers. The mean income per month of the participants was 48706.9 ± 39492.68 PKR. The mean total expenditure per treatment session was 48706 ± 4037.12 PKR. Among the patients, there were 15 (38.5%) who were having average stress, while 4 (10.3%) were having moderate stress while 45 (51.7%0 were having severe stress. Among the caregivers, 10 (20.8%) were having mild stress, 13 (27.1%) were having moderate stress while 25 (52.1%) were having severe stress. The stress among the two groups was not statistically significant (p=0.066). Conclusion: More than half of the patients and caregivers were having a high perceived stress levels and there was a significant association between the two groups. The monetary burden was a lot to bear by the patients and the cost of treatment session most expensive. (author)

[en] Our recent results support the suggestions made by Sangkatumvong et al regarding autonomic dysfunction in sickle cell anemia. (letter to the editor)

[en] Background: Chorionic Villus Sampling (CVS) is the technique of choice for prenatal diagnosis prior to 12 weeks gestation. The objective of this study was to determine the feasibility, and pattern of complications following first trimester Trans-abdominal Chorionic Villus Sampling (TA-CVS). Methods: This was a descriptive study conducted in the Obstetrics and Gynaecology Department Military Hospital (MH) Rawalpindi from Jan 2007 to July 2008. Couples at risk of giving birth to a child with genetic disorder were identified and counselled. Trans-abdominal Chorionic Villus Sampling was done using double needle technique under ultrasound guidance. Immediate and late complications were followed up. Data was analysed using SPPS-10. Results: On 200 cases chorionic villus sampling was done as an outdoor procedure. Most common indication was thalassaemia trait 75 (37.5%). Most procedures were done between 12-13 weeks. All placental positions including 104 (52%) posterior and 71 (35.5%) anterior were approachable. Most aspirations were easy, however, in 30 (15%) the aspiration was difficult. Overall success rate was 100%. In 158 (79%) of the cases sample yield was good. One (0.5%) patient had vaginal bleeding and three (1.5%) had placental haematoma formation. Most patients (84%) experienced mild pain during the procedure. The procedure related miscarriage occurred in 2 (1%) patients while another patient developed this complication after 6 weeks. Conclusion: First trimester TA-CVS is an accurate and safe invasive prenatal diagnostic procedure. Placentas in almost any position can be approached without any significant risk to mother and the foetus. (author)

[en] Patients with thalassemia may complain of numbness and weakness of lower extremities. The aim of the study was to determine whether these patients suffer from a polyneuropathy and to determine any contributing factors for the development of neuropathy. We examined 30 patients with thalasemia major and intermedia, clinically and electrophysiologically. We correlated these findings with demographics, blood status and treatment and compared electrophysiologic data with 30 age and sex matched normal subjects or historical controls. We found that 78% of thalassemia patients suffer from a mild sensory polyneuropathy. The neuropathy seemed to be worse in the intermedia type. Thalassemia patients who received blood transfusions and deferoaximine had better nerve faction than those who did not, irrespective of the dose of the deferoxamine. The neuropathy was worse for the older patients, irrespective of the sex. The hemoglobin level, and the fact that some patients underwent spleenctomy, did not affect the status of the patient's nerves. Patients with thalassemia may suffer from a sensor polyneuropathy especially as they grow older and they are not optimally treated. (author)

[en] We report an incidentally discovered mass in the sphenoid sinus in a patient with beta thalassaemia and sickle-cell disease which proved to be an isolated site of extramedullary haematopoiesis in the skull. (orig.)

[en] Thalassaemia represent one of the most common single gene disorder causing a major public health problem in Pakistan. Nearly 100,000 people are born worldwide with this severe blood disorder every year. Over the last 3 decades, the development of regular transfusion therapy and iron chelation has dramatically improved the quality of life and transformed thalassaemia from a rapidly fatal disease to a chronic disease compatible with prolonged survival. Objective of this observational cross sectional study was to determine the effects of chronic anaemia and transfusional iron overload on the left ventricular function using Doppler echocardiography. This study was conducted in the Department of Paediatric Cardiology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan from first April 2006 to September 30, 2007. The study comprised of 50 consecutive cases of beta-Thalassaemia major and 30 controls with normal haemoglobin and electrophoresis pattern. beta- Thalassaemia major patients were diagnosed on the basis of haemoglobin electrophoresis. Patients with any congenital or acquired heart disease, concurrent infective disorder and with history of cardiac surgery were excluded from the study. 2-D, M-mode and Doppler echocardiography was performed in all the study cases and controls. Statistical comparison of study cases and controls was conducted by using unpaired t-test. The age of the patients ranged from 2 years to 25 years with mean age of 9.65 years. Males were 34 (68%) and females were 16 (32%). None of the study cases was on regular chelation programme while 31 (62%) patients were on irregular chelation with single dose of intravenous desferrioxamine only at the time of blood transfusion. 19 (38%) of the patients had LV dysfunction in the form of isolated systolic dysfunction in 2 (4%), isolated diastolic dysfunction in 15 (30%) while global dysfunction in 2 (4%) of the patients. Left ventricular dimensions, stroke volume and E/A ratio were found considerably high in the study group. A very high percentage of Thalassaemia patients have cardiac involvement as LV dysfunction. This is mainly due to chronic anaemia, poor compliance with chelation therapy and non-availability of proper cardiac monitoring. Regular assessment of cardiac function may help a lot to improve the quality of life of these patients and may reduce the morbidity and mortality to a great extent. (author)

[en] Extramedullary hematopoiesis (EMH) represents tumor-like proliferation of hemopoietic tissue which complicates chronic hemoglobinopathy. Intracranial EMH is an extremely rare occurrence. Magnetic resonance imaging (MRI) offers a precise diagnosis. It is essential to distinguish EMH from other extradural central nervous system tumors, because treatment and prognosis are totally different. Herein, we report the imaging findings of beta-thalassemia in a 13-year-old boy complaining of weakness of left side of the body and gait disturbance; CT and MRI revealed an extradural mass in the right temporoparietal region.