Quality of life in patients with thalassemia major in a developing country.

Objective: To determine the problems faced by thalassemic patients in their personal, psychological and social life. Study Design: A cross-sectional multi-centre survey. Place and Duration of Study: Karachi, Lahore and Quetta Centres of Fatimid Foundation, from October 2009 to October 2010. Methodology: An indigenously developed Qualifty of Life (QoL) questionnaire modified from SF-36 questionnaire was administered to 101 transfusion dependent subjects suffering from thalassemia major. Variables were analyzed using SPSS version 15 for descriptive statistics. Results: The mean age of the subjects was 10.5 years ranging from 6 - 21 years. Less than one third of the patients felt that their health was slightly worse as compared to last year. Forty five (44%) of the patients felt loneliness due to their disease. Parents of 36 (35.6%) of the children at times did not allow their children to play because of their disease. Twenty eight (27.7%) stated difficulty in mingling with children of their age. Seventy one (70.3%) of the patients reported that at some or all times they were worried about their future life and career while 70 (69.3%) admitted being taken extra care of by their friends and 56 (55.4%) by their teachers. Conclusion: The quality of life of surveyed thalassemic patients was immensely affected. Having physical impairments,social stresses, financial burdens and problems with their education and career make them very much vulnerable to psychological trauma very early in their life. All of this creates a hindrance in their way of developing into autonomous functioning adults

Oral iron chelation therapy with deferiprone in patients with Thalassemia Major

OBJECTIVE: To determine the efficacy and adverse effects of deferiprone in patients with Thalassemia Major. METHODS: A prospective case series study was conducted at the Fatimid Foundation Blood Bank and Haematological Diseases center Lahore. A total of 87 patients entered into the study between September 2005 and November 2006. Deferiprone was given at subsidized rates at a dose of 75/mg/day for seven days. Physical examination and initial Laboratory investigations were done in all patients at the start of the study. Physical and laboratory data were filled on a questionnaire and analyzed using SPSS version 10.0. RESULTS: Eighty seven patients with mean age of 10.0 +/- 4.33 years (range 4-27 years) were included in the study. Mean follow up was 8 +/- 3.94 months (range 2-12 months). The mean Ferritin at the start of study was 4656 +/- 2052.5 ug/L (range 1200-14630 ug/L) and at the end of study period was 4139 +/- 1710.4 ug/L (range 749-8961) (p \u3c 0.001). Adverse events were joint pains in 10% patients, gastrointestinal symptoms in 11% and no adverse events in 79% patients. There was no evidence of agranulocytosis in any patient. CONCLUSION: Deferiprone was well tolerated, had few adverse effects and was effective in lowering the patient\u27s serum ferritin level

Frequency of hereditary thrombophilia: an AKUH experience.

Abstract Objective: To determine the frequency of various causes of hereditary thrombophilia at a referral laboratory and the age and gender distribution. Methods: This is a descriptive study incorporating a retrospective analysis of requests for thrombophilia screening sent to Clinical laboratory, Aga Khan University Hospital from November 1995 to May 2002.Patients were screened for hereditary causes of thrombophilia including Protein C, Protein S, antithrombin III, Factor V Leiden and homocysteine. Frequency of each disorder; and age and sex distribution was determined. Results: All the patients suspected clinically for thrombophilia were screened. Of the 2825 patients, 70 were diagnosed to have inheritance as a cause of thrombophilia with a frequency of 2.3% for protein C deficiency, 1.4% for protein S deficiency, 1.5% for antithrombin III deficiency, 14.2% for factor V leiden mutation and 2.0% for homocystenemia. Conclusion: All the causes of hereditary thrombophilia can be diagnosed by relatively simple laboratory methods, however because of the low frequency of these disorders the screening of general population is not indicated in the absence of clinical symptoms. More prospective studies are required to define the occurrence of these disorders and other causes of thrombosis (JPMA 54:427;2004)

Chronic ITP: analysis of various factors at presentation which predict failure to first line treatment and their response to second line therapy

OBJECTIVE: To observe the significance of various factors in chronic idiopathic thrombocytopenic purpura (ITP) which predict the response of first line (corticosteroids) and second line therapy (splenectomy) and to evaluate their response to second line therapy. METHODS: This was a descriptive, prospective study conducted from August 2004 till January 2006. Patients of all age groups and both genders with diagnosis of chronic ITP were included. Treatment protocol and criteria for response assessment was explained. RESULTS: During 17 months period, 86 patients with chronic ITP were analyzed. Non-responders to first line therapy were 74 patients who ultimately required splenectomy. Complete response (CR) was had in 37 (50.7%) patients, 10 (13.7%) and 27 (36.5%) had partial response (PR) and no response (NR) respectively. Analysis of variables like younger age, sex and low platelet count at presentation failed to show any significant influence on response to first line treatment. However response to splenectomy was found to be higher in patients who had initial complete or partial response with steroids and later relapsed and the platelet count was more than 300x10(9)/L on day 14 of surgery. CONCLUSION: Splenectomy remains the most effective treatment of chronic ITP. No significant factor was identified which predicted initial response to first line treatment. However patients who initially responded to steroids and had platelet counts above 300 X109/L about a fortnight after splenectomy showed promising results post-operatively (p=0.003 and p=0.001)

Involvement of bone marrow with intravascular large B-cell lymphoma.

Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of extranodal large B-cell lymphoma characterized by a selective proliferation of lymphoma cells within the lumina of vessels. We report a case of an 86-year-old man who presented with fever, shortness of breath and altered mental status. The diagnosis of IVLBCL was confirmed on a bone trephine biopsy that revealed positivity of CD20 and PAX5 immunohistochemical staining of lymphoma cells confined within the lumina of vessels. The Patient had a rapidly deteriorating clinical course with a fatal outcome even before the specific treatment for the underlying disease was commenced

Antioxidant status in beta thalassemia major: A single-center study

Background: Homozygous β thalassemia may lead to a marked reduction or absence of normal β chain production and accumulation of unpaired alpha-globin chains. A crucial component in the oxidant susceptibility of the thalassemic RBC is the release of heme and iron from the excessive, unpaired α-globin chains. This release can initiate self-amplifying redox reactions, which deplete the cellular reduction potential (e.g., GSH), oxidize additional hemoglobin and accelerate RBC destruction. Furthermore, β-thalassemia patients are under continuous blood transfusion, which, although life-saving, leads to an iron overload with a resultant increase in non-transferrin-bound iron that may cause greater tissue toxicity than iron in other forms. Iron-induced oxidative stress is known to be one of the most important factors determining cell injury in thalassemic patients. Therefore, we designed this study to obtain a comprehensive picture of the iron overload, antioxidant status and cell damage in β thalassemia major patients undergoing regular blood transfusion. Materials and Methods: A total of 48 diagnosed patients of β thalassemia major and 30 age- and sex-matched healthy subjects were included in the study. Estimation of hemoglobin, hematocrit, glutathione peroxidase (GPX), superoxide dismutase (SOD),vitamin E, serum ferritin, total and direct bilirubin, AST and ALT was carried out. Results: The levels of vitamin E, antioxidant enzymes GPX and SOD were significantly lowered in β thalassemic patients as compared with the control group (P<0.001). Serum total and direct bilirubin, AST and ALT were significantly elevated in thalassemic subjects as compared with the control group, indicating liver cell damage. Conclusion: Thus, our findings indicate that thalassemics are in a state of enhanced oxidative stress and that the administration of selective antioxidants would represent a promising approach toward counteracting oxidative damage and its deleterious effects on the disease status

Clinicopathologic spectrum of Waldenstrom\u27s macroglobulinemia: a single center experience.

Waldenstrom\u27s Macroglobulinemia (WM) is a B cell neoplasm characterized by infiltration of the bone marrow by a lymphoplasmacytic infiltrate and an IgM monoclonal gammopathy. We report a 15-year review of Patients diagnosed with WM at our center. A total of 18 Patients were diagnosed and treated at our center during the study period. Neurological symptoms were seen in almost 95% while B symptoms were present in almost 80% of Patients. More than two-thirds of Patients were anemic at the time of presentation and more than 90% showed bone marrow infiltration with lymphoplasmacytoid cells. Anemia, B symptoms, splenomegaly and neurological symptoms were the primary reasons in the majority of Patients to initiate treatment. Chlorambucil was the primary treatment in more than half the Patients followed by CVP. The median overall survival in all Patients was 29 months (range 22-81 months). WM is a rare disorder and novel therapeutic modalities need to be identified to improve survival in these Patients

Clinical audit of inherited bleeding disorders in a developing country.

Objective:We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials And Methods: All Patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV) status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered Patients were reviewed at Lahore center and of these, 408 Patients (44.2%) were on regular follow-up. Inherited bleeding disorders identified in these Patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency, and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6%) males and 79 (19.3%) females. The products used in these Patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these Patients and one Patient (0.2%) was found hepatitis B positive, six Patients (1.4%) were hepatitis C positive and two Patients (0.49%) were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our Patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the Patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs) are trying their best for providing optimal treatment to Patients with inherited bleeding disorders. There is a need for government participation to improve the availability of current hemophilia care services