Cryptococcal neoformans profiles in peripheral blood neutrophils: an unusual presentation.

We report an unusual observation of Cryptococcal neoformans profiles engulfed by neutrophils on a routine peripheral blood smear examination in an HIV-negative young female patient who presented with perforation of large bowel following a pregnancy termination procedure by an untrained midwife.

Impact of external haematology proficiency testing programme on quality of laboratories.

BACKGROUND & OBJECTIVE: A reliable and reproducible report from a laboratory needs internal quality control within the laboratory and participation in external proficiency testing programmes (EPTP). This study conducted at the Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, which has been conducting an EPTP since 1992, was undertaken to assess the efficacy of this programme in improving the performance of participating laboratories in reporting test samples sent for Hb, total leucocyte count (TLC), reticulocyte count and assessment of peripheral blood smear (PBS). METHODS: The samples were prepared in our laboratory according to the International Standards Organization (ISO) guidelines. The performance of individual laboratories was assessed using robust Z score, which is an indicator of acceptability of the test result. RESULTS: An improvement in the overall percentage of laboratories with acceptable reports was seen during the study period. It has increased from 38,40,40 per cent in 1992 to 85, 90,94.7 per cent in 2006 for Hb, TLC, reticulocyte count, respectively. However, the results for peripheral smear assessment improved only marginally. INTERPRETATION & CONCLUSION: The external haematology proficiency testing programme run by our department for Hb, TLC, reticulocyte count, and peripheral blood smear assessment, has helped in improving the reporting standards of these parameters in Indian laboratories.

Acute T lymphoid and megakaryoblastic bi-lineal leukemia in a child.

A 1 1/2-year-old boy presented with fever, anemia, petechial rash and hepatosplenomegaly. Bone marrow examination showed two morphologically distinct blasts (small and large) which were confirmed on immunophenotyping to be of T-lymphoid and megakaryocytic lineages respectively. Patient was refractory to therapy. This is a rare combination of bi-lineal leukemia in a child.

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.

Congenital vitamin K-dependent coagulation factor deficiency: a case report.

Congenital vitamin K-dependent coagulation factor deficiency is a very rare bleeding disorder, which usually presents with episodes of intracerebral bleed in the first few weeks of life, sometimes leading to a fatal outcome. We report a case of combined factor deficiency of vitamin K-dependent factors in which the patient presented with both intracerebral bleeding, and possibly also thrombosis, and responded to a vitamin K supplement along with fresh frozen plasma.

Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography.

BACKGROUND: Hemoglobin-D-Punjab (HbDP) is an uncommon structural hemoglobin variant, which is reported to be prevalent in North Western India. There are only a few small series, family studies and anecdotal reports of this entity in the literature. We report the largest single center experience on this entity diagnosed by cation-exchange high performance liquid chromatography (CE-HPLC) from India. AIM: To document and analyze the clinical, hematological and chromatographic parameters of patients with HbDP syndromes. PATIENTS AND METHODS: A total of 6889 blood samples (both pediatric and adult) were screened for hemoglobinopathies and structural hemoglobin variants by CE-HPLC; beta thal short program (BTS), Bio-Rad variant for evaluation of anemia and for family and antenatal screening studies. RESULTS AND CONCLUSION: A total of 484 cases of structural hemoglobin variants comprising of HbS, E, D-Punjab, D Iran, Lepore, and J-Meerut were detected. HbDP syndromes constituted 38 (7.8%) of all hemoglobin variants and 0.55% of all the samples screened for hemoglobinopathies. Heterozygous HbDP constituted 23 of 38 (61%) cases and homozygous HbD/D, HbS/D and HbD/beta constituted 9/38 (24%), 2/38 (5%), and 4/38 (10%) respectively. HbDP syndromes are not uncommon and are relatively underdiagnosed. CE-HPLC has the advantage of rapid detection and accurate quantitation. Electrophoresis and CE-HPLC can be complementary in making accurate diagnosis of these entities.

Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India.

Hereditary spherocytosis (HS) is an inherited membranopathy characterized by phenotypic and genotypic heterogeneity. This study describes the clinico-hematological profile of 70 HS patients diagnosed at a tertiary care center in North India over a period of five years. Patients commonly presented with intermittent jaundice (82.9%), pallor (80%) and dark colored urine (11.4%). The common signs were splenomegaly (92.9%), hepatomegaly (50%), cholelithiasis or choledocholithiasis (36.8%) and hemolytic facies (10%). Family history was contributory in 28.6% patients. Blood transfusion (BT) requirement was present in 35.7% patients. Unconjugated and conjugated hyperbilirubinemia was seen in 89.1 and 10.9% patients respectively. At presentation, the hemoglobin ranged from 3-14 g/dl with a mean of 9.37 g/dl (SD2.43). Spherocytes were seen in 88.6% and incubated Osmotic fragility test (OFT) was positive in 88.2% patients. The Eosin-5-maleimide (EMA) flow cytometric test was done in 28 patients. Mean fluorescence intensity (MFI) for normal subjects was 11861.5 (SD-883.51) and for confirmed HS patients was 7949.3 (SD1304.1). Taking the MFI range of 5341.1-10 557.5 for HS, eight cases of suspected HS/undiagnosed hemolytic anemia with a negative (n=5) or equivocal (n=3) incubated OFT were diagnosed as HS. An increase in HbF level was seen in 10 cases ranging from 2.1 to 17.7% with a mean of 5.66%, three of these had associated beta thalassaemia trait. Twelve patients (17%) underwent splenectomy and 91% of them did not require any BT post-splenectomy. Among the patients treated conservatively 49% had persisting pallor and 16.3% had transfusion requirement.

Hb J Meerut, a fast-moving hemoglobin: a study of seven cases from India and a review of literature.

Fast-moving hemoglobins (FMH) are rare abnormal hemoglobin variants which migrate anodal to hemoglobin A on alkaline agarose gel electrophoresis. Only five cases of Hb J Meerut, an alpha variant FMH, have been reported so far. We here report seven cases.

Thirty-nine cases of pure red cell aplasia: a single center experience from India.

UNLABELLED: Pure red cell aplasia (PRCA) is an uncommon disorder, characterized by transfusion dependent anemia, reticulocytopenia with selective aplasia or paucity of erythroid cells in bone marrow. There are only a few large series of PRCA reported in literature. This is the largest single center series of PRCA from India. OBJECTIVE: To evaluate the utility of Immunohistochemistry with Glycophorin A on bone marrow biopsies in quantitating the cut-off percentage of erythroid blasts required for diagnosis, as the upper cut-off percentage of erythroblasts for establishing a diagnosis of PRCA is still not clear. METHODS: The clinical data were obtained from patients' case files. Immunohistochemistry with Glycophorin A was performed using an immunoperoxidase technique and percentage of Glycophorin A positive cells of all nucleated cells was calculated by two independent observers. RESULTS: In our study, bone marrow aspirates showed a variable percentage of erythroblasts ranging from 2 to 12% (mean 6.3%) in children and from 1 to 8% (mean 4.6%) in adults on Giemsa smears. Immunohistochemistry (IHC) with Glycophorin A showed a mean positive cell % of 8.2 (range 2-16%) and 6.8 (1-9%) in pediatric and adult respectively against a mean of 28% (range 21-39%) in idiopathic thrombocytopenia (ITP) cases. Treatment with prednisone showed good response in a majority of both adults and childhood PRCA. Cyclosporine was found to be a good alternative in prednisone non-responders. Thymectomy was beneficial in patients with thymoma. CONCLUSION: A higher percentage of erythroid cells (>5%) does not exclude a diagnosis of PRCA in an appropriate clinical setting and therefore can be managed as PRCA.

Sub classification and clinico-hematological correlation of 40 cases of acute erythroleukemia - can proerythroblast/myeloblast and proerythroblast/total erythroid cell ratios help subclassify?

The clinico-hematological profile of 40 cases of acute erythroleukemia (AEL) was evaluated. These were subclassified into three types, namely AML M6a, M6b and M6c based on the myeloblast and proerythroblast percentages. The proerythroblast percentage has been shown to be a prognostic indicator by several studies. As AEL is biologically an "erythroid predominant" disease, two ratios (PE/MB, PE/TEC) with proerythroblasts as numerator have been formulated. An attempt has been made to assess the difference in these ratios in subclassified AEL. There were 29 M6a, 2M6b,and 9 M6 c patients, which were subclassified using the criteria proposed by Mazzella et al. The incidence of AEL in our study was 3.7%, predominantly affecting males with a predilection to younger age in contrast to Western studies. Both PE/MB and PE/TEC ratios were higher in M6b and M6c in comparison to M6a. The subclassification of AEL becomes essential especially in the era of lineage-targeted therapies, which can lead to the development and use of erythroid specific treatments in the near future.

Bone marrow aplasia--a rare complication of imatinib therapy in CML patients.

Imatinib mesylate therapy in CML patients is a generally well tolerated without any significant hematological adverse drug effects. However, complications like anemia and cytopenias have been described in literature. A very few case reports of bone marrow aplasia following imatinib therapy have been reported so far. We here report five patients of CML who developed bone marrow aplasia following imatinib therapy.

Visceral leishmaniasis with aplastic bonemarrow: coincidental or causal.

Acquired aplastic anaemia (AAA) is caused by aetiologies ranging from infectious agents, chemical toxins, drugs, and autoimmune disorders. Few reports exist which establish a causal association of parasites in AAA. Causal association of Leishmania donavani infection in AAA has not been reported to date.