Fanconi anemia presenting as acute myeloid leukemia: a case report.

Fanconi anemia is an autosomal recessive disorder characterized by phenotypic abnormalities, increased chromosomal breaks and predisposition to various hematological and non-hematological malignancies. We present case report of a paediatric patient with Fanconi anemia presenting as acute myeloid leukemia. The presence of dysplastic features in this marrow suggests the possibility of a prior stage of myelodysplasia progressing to leukemia.

Hemolytic anaemia due to unstable hemoglobin arising from spontaneous mutation--a case report.

9 years old male child presented clinically with thalassaemia intermedia phenotype. Investigations revealed hemolytic anaemia due to an unstable hemoglobin. Parents were found negative for the abnormal hemoglobin, suggesting a spontaneous mutation in the child. This is the third case of unstable hemoglobin to be reported from India. Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal.

Attenuated form of Evans syndrome among pediatric ITP patients.

Long term follow up of adult patients with immune thrombocytopenic purpura (ITP) have shown evolvement of secondary autoimmune diseases such as SLE, Evans syndrome, autoimmune neutropenia, Graves disease etc. We studied 30 cases of pediatric ITP patients for evidence of hemolysis to assess the possibility of Evans like syndrome. Measurement of free serum haptoglobin, a sensitive indicator of red cell destruction was used after careful exclusion of micro angiopathic hemolysis, SLE or overt Evans Syndrome. Results showed abnormally low level of free serum haptoglobin in 11 of the 30 (36.7%) patients compared to that in 20 age matched controls (P < 0.001) as an evidence of hemolysis. Our data in pediatric patients is similar to that reported in adult ITP cases and support the observation of Evans made 50 years ago that there is a spectrum like relationship between primary thrombocytopenia and hemolytic anemia. Thus the concept of attenuated form of Evans syndrome could be considered, in group of patients with ITP in pediatric age group.

Myelodysplastic syndrome with erythroid hypoplasia: a rare and distinct clincopathological entity--a report of two cases.

Erythroid hypoplasia in myelodysplastic syndrome (MDS) happens to be a rare association and is being recognized as a distinct clinico pathological entity. We report here two such cases diagnosed as Refractory anaemia (RA) and Refractory anaemia with excess blast (RAEB) who had marked suppression of the erythroid cell lines. Both patients presented with severe transfusion dependent anaemia. Recognition of these cases is important as alternative modalities of treatment such as immunosuppressives may be considered for these patients.

Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: a preliminary study.

The population of North-eastern region of India is of different tribes, races and ethnic backgrounds. The study of abnormal haemoglobins and G6PD has been usefully utilized in population genetics to evaluate the nature and extent of selective forces operating in a population. Data on haemoglobinopathies and G6PD deficiency is still not available from the State of Mizoram. The present study was aimed to document the frequency of these genetic traits in the Mizos of Mizoram. Blood samples in the form of dried filter paper spots collected from 490 Mizos were subjected to haemoglobin electrophoresis in starch agar gel for detection of haemoglobin variants and fluorescent spot test was conducted for screening of G6PD deficiency. Hb E was the only haemoglobin variant detected. The prevalence of the carreer state was documented to be 1.5%. G6PD deficiency was prevalent in 17.5% of this population. The prevalence of Hb E was much lower and that of G-6PD deficiency was found to be much higher than what has been reported from most other states of the north-eastern region of India. This might point towards a different ethnic origin of this population.

Haematological profile of childhood visceral leishmaniasis.

Visceral leishmaniasis is the most severe form of the disease affecting children. Definite diagnosis relies on the demonstration of the parasite in various tissues. Bone marrow examination is a well accepted method, but has sensitivity between 60-85%. In the present study we analyzed other associated bone marrow features in 28 cases of pediatric leishmaniasis, which would help raise the suspicion level and thus bring about more positive results. Pancytopenia was observed in 54% cases and bicytopenias in another 20.5% cases. Peripheral absolute lymphocyte count did not increase in any case. Increase in plasma cells (mean 6.7%) and increase of phagocytic cells (28.5%) with haemophagocytosis (21.43%) was observed frequently in the bone marrow.

Myxomatous stromal changes and necrosis of bone marrow--a retrospective study of 3 years.

Myxomatous stromal changes and bone marrow necrosis (BMN) are uncommon histologic findings. These changes have been found in various conditions like disseminated carcinomatosis, postchemotherapy cases, chronic infections, infiltrative disorders of the marrow etc. The present study is a retrospective study of 3 years (Jan, 1999 to Dec. 2001) from Deptt. Of Hematology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh (India). During this period, 3740 bone marrow samples were examined. Myxomatous stromal changes and bone marrow necrosis were noted in 0.43% (16/3740) and 0.45% (17/3740) samples respectively. In addition to common causes of myxomatous stromal changes and bone marrow necrosis as described in the literature, this study highlights the association of these conditions with some of the rarer entities like hyperoxalosis, leishmaniasis, parvovirus induced marrow aplasia and cryptococcal infection. There is paucity of such associations in the literature.

Lupus anticoagulant in immune thrombocytopenic purpura.

OBJECTIVE: Antibodies against phospholipid antigens (APA) have been demonstrated in adult idiopathic(immune) thrombocytopenic purpura (ITP), but their clinical and pathogenetic significance has remained elusive. Also there are no such studies available in pediatric ITP cases. In this study, the prevalence and clinical significance of APAs were investigated in pediatric patients with ITP. METHODS: Forty newly diagnosed ITP patients (age 2-13 years) were prospectively studied. They were evaluated for the presence of lupus anticoagulant (LA). RESULTS: Eleven patients (27.5%) were LA positive at the time of diagnosis. No statistically significant differences were found between the LA-positive and LA-negative groups regarding gender, initial platelet counts, or response to methyl prednisolone therapy. After 6 months of follow up, 5 of the 11 LA-positive cases were still positive for LA. The frequency of LA positivity found in this pediatric age group was similar to that reported in adult patients. CONCLUSION: In view of the fact that in adult patients with ITP, the persistent presence of APAs is an important risk factor for the development of antiphospholipid syndrome, the same may also hold true for pediatric ITP patients, and thus 'demands long term follow up for these patients.

Bone marrow metastasis in solid tumors.

Bone marrow examination has been increasingly useful in documenting metastatic involvement of tumors. A retrospective analysis of 73 cases of bone marrow metastasis of solid tumors revealed 27 cases in the pediatric age group and 46 cases in the adult age group. All 27 pediatric cases were that of neuroblastoma. In the adult bone marrow metastasis from carcinoma prostate were present in 22 cases followed by carcinoma breast in 13 cases. Rest were 5 cases of carcinoma lung, 4 cases of carcinoma colon, 1 case each of carcinoma thyroid and renal cell carcinoma. A number of associated features were observed which may help to suggest bone marrow metastasis, in the absence of tumor cells in the bone marrow.