Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

BACKGROUND AND OBJECTIVES: A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. METHODS: Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). RESULTS: Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. INTERPRETATION AND CONCLUSION: Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.

Hairy cell leukemia-variant--a case report.

Hairy-cell leukemia-variant (HCL-V) is a rare B-cell disorder which accountsfor 10% of HCL cases. The main features are splenomegaly, lymphocytosis and cytopenias without monocytopenia. The circulating cells have a morphology intermediate between prolymphocytes and hairy cells. The immunophenotype shows a mature B-cell phenotype with expression of B-cell antigens CD11c and CD103 but unlike typical hairy cell the cells are negative for CD25. The histology of bone marrow and spleen shows a pattern of infiltration similar to that in HCL. We present a case of HCL-V in a 66-year-old male. The bone marrow findings, immunophenotypic profile and electron microscopic features are described. The patient underwent splenectomy which also revealed infiltration by leukemia. Patients are resistant to alkylating agents and alpha-interferon (á-IFN). Splenectomy may be beneficial for long-lasting partial responses in some of the patients and is a good palliative treatment.

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.

Phenobarbitone prophylaxis for neonatal jaundice in babies with birth weight 1000-1499 grams.

Management of neonatal jaundice is simple but in sick, very low birth weight babies poses additional hemodynamic insult. Role of prophylactic postnatal phenobarbitone (two different dosage regimens) was evaluated prospectively on occurrence of neonatal jaundice and the need for therapy in 150 babies with birth weight 1000-1499 grams. Phenobarbitone in the dose of 10mg/kg given within 6 hours of life followed by 5mg/kg/day till day 5 of life intravenously significantly decreased the need for exchange transfusion and duration of phototherapy in babies with birth weight of 1000-1499 grams. This dosage schedule was better than dose of 5mg/kg for 5 days in significantly reducing the duration of phototherapy