Objective: To study the five mutations commonly prevalent in North India, i.e., IVS-I-5 (G→C), 619 bp deletion, IVS-I-1 (G→T), codon 41/42 (-TTCT), and codon 8/9 (+G), in the beta thalassemia (β-thalassemia) major children.
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September 2014
Non-immune haemolysis is a rare manifestation of acute leukaemia and more so in acute myeloid leukemia. Here, we report a case of non-immune and non-fragmentation haemolysis as the initial presenting manifestation in a 55-year-old female with acute myeloid leukaemia (AML-M6). All other potential aetiologies of haemolysis were excluded, including drugs, paroxysmal nocturnal haemoglobinuria, immune and other known congenital and acquired causes of haemolytic anaemia.
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October 2013
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia and predisposition to both hematologic malignancies and solid tumors. We report, a 14-year-old boy who presented with clinical features of aplastic anemia (AA). Subsequent bone marrow examination and multiparametric flowcytometric immunophenotyping revealed an evolving hypoplastic acute myeloid leukemia.
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March 2010
Primary diagnosis of lymphomas from ascitic fluid is rare. We report a case in which a patient being worked up as a case of carcinoma head of pancreas turned out to be a lymphoma on routine ascitic fluid examination and was further sub-classified as a CD 10+ B-cell lymphoma on flow cytometric analysis.
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December 2007
Chronic Eosinophilic Leukemia (CEL) is a rare type of chronic myeloproliferative disorder of unknown etiology with no available true incidence. The vaguely overlapping clinico - pathological picture of CEL with idiopathic hypereosinophilic syndrome (IHES) often adds to the diagnostic confusion. An evidence of genetic clonality of eosinophils or an increase in blast cells in the blood or bone marrow is mandatory for diagnosis of CEL while no specific diagnostic tests exist for IHES; making it an entity of exclusion.
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