Increased expression of HLA DR2 in acquired aplastic anemia and its impact on response to immunosuppressive therapy

Objective: To study the frequency of HLA DR2 status of patients with aplastic anemia and their response to immunosuppressive therapy at a tertiary care hospital. Methods: Thirty eight consecutive patients of acquired aplastic anemia were evaluated with respect to demographic features, severity of HLA DR2 status and response outcome to immunosuppressive therapy. Results: The mean age of the patients was 24.6 years + 16.4 with a male to female ratio of 2.8:1. Positivity of HLA DR2 was markedly high in acquired aplastic anemia patients. Twenty four (65%) out of 38 patients as compared to 45 (15%) of 300 healthy controls (p\u3c0.0001) were positive for HLA DR2. Response to immunosuppressive therapy, which included antilymphocyte globulin, cyclosporin and methylprednisolone, was available in sixteen HLA DR2 positive patients and was found satisfactory in 12/16 (75%) patients. Conclusion: HLA DR2 was significantly higher in patients with acquired aplastic anemia and favourable response to immunosuppressive therapy was also associated with HLA DR2 positivity (JPMA 54:251;2004)

Prevalence of hepatitis C virus in lymphoproliferative disorders

Objective: To study the prevalence of hepatitis C virus in lymphoproliferative disorders. Methods: A case control prospective study was performed on 143 patients with lymphoproliferative disorders and 29 patients with non-hematological malignancies were taken as controls. All the patients in both groups were analyzed for various risk factors for infection with hepatitis C virus and were tested for the presence of hepatitis C virus antibody (anti HCV), cryoglobulins and rheumatoid factor antibody. Hepatitis C viremia was documented by detection of HCV RNA by polymerase chain reaction. Results: There was no significant difference for risk factors for hepatitis C virus infection in both the groups except for the increase in number of surgical procedures being carried out in the control group. There was no significant difference in the presence of rheumatoid factor antibody in both the groups and cryoglobulins were not positive in any individual. Five percent patients with lymphoproliferative disorders and 3.4% with non-hematological malignancies were positive for anti HCV. HCV RNA was detected in 29.2% cases and 31.0% in controls. Conclusion: There was no association between hepatitis C virus infection and lymphoproliferative disorder in our population. However, further studies are required from this region to establish any causal relationship between hepatitis C virus infection and lymphoproliferative disorde

Impaired splenic function in systemic amyloidosis: diagnostic importance of peripheral blood film

We describe case of a 40 year old male, who went on to developed systemic amyloidosis 3 years after the diagnosis of chronic renal failure. The diagnosis of systemic amyloidosis was suspected upon a routine examination of periheral blood film showing features of hyposlenism. We would like to highlight the importance of examination of pheripheral blood film in patients with renal failure for the diagnosis of extensive systemic amyloidosis which occasionally leads to functional hyposplenism, recognized by the presence of abnormal red cell morphology and reduced splenic uptake on isotope scan1

Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters

Objective: To evaluate the various clinical and laboratory parameters of Polycythemia vera and idiopathic erythrocytosis in order to differentiate between two entities at the Aga Khan University Hospital. Methods: Twenty six patients of polycythemia vera and 34 patients of idiopathic erythrocytosis were analyzed with respect to clinical features and laboratory findings. Results: Patients with idiopathic erythrocytosis were males with a mean age of 41 years and no splenomegaly. Patients with polycythemia were older males and females with splenomegaly, red cell count of mor than 6.5 million/cmm, haematocrit 55%, leucocytosis, thrombocytosis and low erythropoietin level. Conclusion: Based on the above-mentioned findings, we suggest that polycythemia vera and idiopathic erythrocytosis are separate entities and the diagnosis of these can be made on the basis of clinical and laboratory parameter

Molecular analysis of six factor xiii-a-deficient families in Southern Pakistan

Factor XIII deficiency is a severe autosomal recessive bleeding disorder which is commonly due to absence of the A subunit protein. Molecular studies have shown that factor XIII-A deficiency is genetically heterogeneous and over 40 mutations have been described in the A subunit gene. We have recently performed genetic analysis on six apparently unrelated families with inherited factor XIII-A deficiency from the Southern region of Pakistan. In five families, affected individuals were shown to have an identical homozygous splice site mutation – a single nucleotide substitution (G→A) of the last base of exon 14. This mutation, which has been previously described in two Caucasian patients in the UK, results in exon skipping of exon 14 and a truncated mRNA transcript ( Anwar et al, 1995 ). Further analysis using the HUMF13A01 short tandem repeat (STR) marker closely linked to the A subunit gene ( Polymeropoulos et al, 1991 ) showed that 9 of the 10 alleles with the exon 14 G→A mutation were associated with an identical (AAAG)5 repeat. The level of consanguinity in the Pakistan population is high and this observation would suggest a founder effect (i.e. inheritance of a common ancestral gene mutation). One patient, however, was heterozygous for the (AAAG)5 allele and an (AAAG)7 repeat. As microsatellite instability is apparently rare in STR sequences with repeat numbers of \u3c 10 and almost invariably involves loss or gain of a single repeat ( Brinkmann et al, 1998 ), it seems likely that the two identical exon 14 splice site mutations in this patient have arisen independently