Congenital sideroblastic anemia: A report of two cases.

Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major.

OBJECTIVE: To assess the efficacy of wheat grass juice on transfusion requirement in patients with beta thalassemia major. METHODS: Fifty-three patients of thalassemia major with a median age of 16 years were given wheat grass juice tablets. RESULTS: The Mean pre and post wheat grass therapy, the pack cell requirement was 288.06 +/- 53.25 gm/Kg/year and 301.25 +/- 54.86 gm/Kg/year (p =0.054) respectively. No adverse effects were noted. CONCLUSION: We conclude that wheat grass therapy for one year is not effective in reducing the transfusion requirement in transfusion dependent thalassemia.

Paroxysmal nocturnal hemoglobinuria in childhood and adolescence--a retrospective analysis of 18 cases.

OBJECTIVE: To assess the clinical and hematological profile of PNH in children. METHODS: Clinical and laboratory features of children with PNH diagnosed in the past six years at our centre were reviewed. Various investigations done included a complete blood count and peripheral smear examination, plasma hemoglobin, urine hemosiderin, acid ham test, sucrose lysis test, immunophenotyping of erythrocytes by sephadex column gel card and of granulocytes by flow cytometry. There were 18 children with a marked male predominance (M 14: F 4). RESULTS: Pallor, jaundice, dark urine and bleeding manifestations were the major presenting complaints. One girl suffered an arterial stroke. All children had cytopenia in at least one cell line. Children were treated with danazol, stanazolol, prednisolone and cyclosporin A variously. Overall response rate was 61%. Children with classical PNH performed slightly better with response rates of 66% (6/9) as compared to aplastic anemia-PNH group which has a response rate of 55% (5/9). Amongst various variables only danazol correlated with better response (p=0.029). CONCLUSION: PNH is an uncommon disease in children and should be included in the differential diagnosis of children presenting with cytopenia.

A case of rhabdomyosarcoma masquerading as acute leukemia at presentation: a case report.

Non-hematopoietic malignancies infiltrating bone marrow have always been a source of erroneous diagnosis. Among these, the small round cell tumors like neuroblastomas and rhabdomyosarcomas mimick the hematopoietic blasts. Several case reports of rhabdomyosarcoma mimicking acute leukemia, clinically and morphologically at presentation have been reported in the literature. To the best of our knowledge such an entity has not been reported in Indian literature. We report here one such case of alveolar rhabdomyosarcoma masquerading as acute leukemia. A thorough clinical examination with high degree of suspicion on bone marrow morphology and judicious use of appropriate immunohistochemistry markers will solve many of these cases.

Gel card in the diagnosis of autoimmune haemolytic anemia.

The diagnosis of autoimmune haemolytic anaemia (AIHA) requires the establishment of haemolysis and demonstration of autoantibodies against red cells. Most laboratories use the conventional Coomb's test for the demonstration of the autoantibodies. However, in approximately 2-6% of the patients who present with the clinical and haematological features of AIHA, the direct agglutination test is negative on repeated testing. Attempts are therefore being made to identify a test which could be more sensitive than the conventional test, yet retaining the simplicity and cost effectiveness of the test. In the present study, the efficacy of the newly developed gel card test has been compared with the conventional Coomb's test for detection of autoantibodies in 50 cases clinically suspected to have haemolytic anemia. The gel card picked up the antibodies in all the cases detected to be positive by the conventional test. In addition, the gel card also picked up 5 tests which were negative by the conventional method. The sensitivity and specificity of the gel card Direct Coomb's test (DCT) as compared to the conventional tube test for DCT was found to be 100% and 95.1% respectively. The Indirect Coomb's test (ICT) was 100% sensitive and 92.5% specific. In view of the high sensitivity and specificity and the simplicity of the procedure, this test may be effectively used for diagnosis of AIHA.

Spectrum of hemostatic derangements, in Budd-Chiari syndrome.

BACKGROUND: Hemostatic abnormalities have been reported in various hepatocellular diseases. We evaluated the hemostatic functions in patients with Budd-Chiari syndrome. METHODS: Biochemical liver function tests, and measurement of prothrombin time, activated partial thromboplastin time, and plasma levels of anti-thrombin III (antigen) and activity of protein C were done in 36 patients with Budd-Chiari syndrome. RESULTS: Liver biochemistry was abnormal in 34 patients. Plasma prothrombin time and activated partial thromboplastin time were prolonged in 17 (47%) and 23 (64%) patients, respectively. Antithrombin III antigen levels and protein C activity were reduced in 15 (50%) and 25 (83%) patients, respectively, among the 30 patients studied. Albumin levels showed significant correlation with coagulation test results, levels of anti-thrombin-III, and protein C activity. CONCLUSION: Hepatic synthesis of coagulation factors and anticoagulants is reduced in Budd-Chiari syndrome; this may play a role in recurrence of thrombosis.