ABSTRACT
To analyze patients suffering from aplastic anemia [AA, peripheral pancytopenia and hypocellular bone marrow in the absence of dysplasia, infiltration and fibrosis] for documenting patient's baseline characteristics and association with various human leucocyte antigens. An observational, cross-sectional study. The National Institute of Blood Disease [NIBD], Karachi, from March 2003 to August 2008. All consecutive patients with confirmed diagnosis of AA were evaluated. Data included the baseline characteristics, complete blood counts [CBC], bone marrow biopsy findings, severity of disease, exposure to drugs or chemicals, viral serology and their HLA expression. The data was analyzed on SPSS programme and frequencies were documented. Among 318 patients, there were 236 [74.21%] males and 82 [25.78%] females. Median age was 16 and 70% belonged to urban population. Drug exposure could be established in 23 [7.23%] of cases, while 4 [1.25%] were HBV surface antigen positive and 7 [2.2%] were HCV antibodies positive. In all, 73 [22.9%] had very severe AA, 195 [61.32%] had severe AA while 50 [15.7%] cases had non-severe AA. HLA B5 [52] showed high expression in 83 patients [26%] in comparison to 5.9% reported in healthy population. AA was found to affect young adult males living in urban areas. HLA B5 [52] showed higher expression in patients with aplastic anemia
ABSTRACT
To determine the effectiveness and feasibility of transabdominal chorionic villi sample [CVS] procedure for prenatal diagnosis of beta-thalassaemia in a Muslim majority community. Between January 2005 and December 2011, we analysed 798 high-risk mothers with 12-16 weeks of pregnancy for beta-thalassaemia using CVS, performed with a transabdominal route under local anesthesia and ultrasound guidance. The chorionic villi extracted were investigated upon using genomic amplification of beta-globin gene by polymerase chain reaction [PCR]. A total of 798 of which 224[28%] fetus were diagnosed as major, 400[50.1%] as minor, 173[21.6%] as healthy fetus and 1[0.12%] fetus had undetected mutation. Procedure related complications were seen in 20 cases [2.4%] and missed abortion occurred in 6/798. Seven [3%] couples had refused to abort beta-thalassaemia major fetus where as 97% fetus was aborted as per recommendations. Ultrasound guided transabdominal CVS is an effective procedure for prenatal diagnosis of beta- thalassaemia in a Muslim community. We found no cultural hurdles for fetal sampling and prenatal diagnosis
ABSTRACT
The case report of a 2 year old boy with steroid refractory DBA, treated with allogeneic PBSCT from an HLA matched sibling is presented. Anti-IL2 receptor antibody Daclizumab was used as a prophylaxis for graft versus host disease [GvHD]. Complete recovery without any evidence of GvHD ensued
ABSTRACT
The case report of a 2 year old boy with steroid refractory DBA, treated with allogeneic PBSCT from an HLA matched sibling is presented. Anti-IL2 receptor antibody Daclizumab was used as a prophylaxis for graft versus host disease [GvHD]. Complete recovery without any evidence of GvHD ensued
Subject(s)
Humans , Male , Anemia, Diamond-Blackfan/surgery , Graft vs Host Disease/prevention & control , Stem Cell Transplantation , Transplantation, Homologous , Steroids , Drug Resistance , Receptors, Interleukin-2/immunologyABSTRACT
To present the survival and evaluate the demographic characteristics as risk factors for acute and chronic graft versus host disease [GvHD] in 100 recipients of HLA identical related allogeneic peripheral blood stem cell transplantation. Indications for transplant were non-malignant and malignant haematological disorders. Bu/Cy conditioning was given for haematological malignancies and b-Thalassaemia major, Cyclophosphamide was given in aplastic anaemia. GvHD prophylaxis was Cyclosporin and Methotrexate. The patients received a median nucleated cell dose of 7.93 108/kg. Of 100 recipients, 72 were males and 28 females. Median age was 13.5 years [range 1.5-44]. There were 65 male and 35 female donors. Median age was 15 years [range 4-45]. Grade-I aGvHD was noted in 18 [18%], Grades-II in 6 [6%], Grade-III in 3 [3%] while Grade-IV in 1 [1%] patients. Diagnosis was found to be a significant risk factor for aGvHD. Kaplan Meyer analysis showed that malignancy, aGvHD, recipients above 14 years of age, female patients and engraftment after 12 days were associated with poor outcome. Of 78 patients alive beyond 100 days, 19 [24%] developed cGvHD. Mean follow up was 466 days [range 30-1766]. Median survival of this cohort of patients was 338 days [mean 479 days, 95% CI 72 - 729]. Incidence of acute and chronic GvHD was similar to published data. Grade of aGvHD, extent of cGvHD, female patients and haematological malignancies were associated with higher rate of aGvHD and a worse outcome