Tuphan Kanti Dolai

Intracranial haemorrhage in patients with congenital haemostatic defects

Summary.  We investigated 52 of 457 patients with congenital factor deficiencies with 57 episodes of intracranial haemorrhage (ICH) between 1998 and 2007. There were 38 severe haemophiliacs, 6 with factor XIII deficiency, 5 with factor X deficiency, 2 factor V‐deficient patients, and 1 with type 3 von Willebrand disease (VWD). The median age was 8 years (range 1 month–22 years). Most patients were below 15 years of age (86.5%). All patients with factor X deficiency were between 1 and 5 months of age. ICH was the primary bleeding episode leading to detection of factor deficiency in 19.2% (five patients with severe haemophilia and all patients with factor X deficiency). Trauma caused bleeding in 66%. None of the patients with factor X deficiency had history of prior trauma. Surgery was performed in five patients with subdural haematomas, all of whom survived. Conservative factor replacement with 100% correction for 3 days followed by 50–60% correction for 7 days was possible in 60% patients. Seizures requiring prolonged therapy were noted in eight patients. Death was recorded in 15 patients (29%). Inadequate therapy in the form of delay or insufficient replacement was noted in 7/15 deaths. ICH was seen in 11.3% of all patients with coagulation factor deficiencies. Factor X deficiency presented with ICH at an earlier age. Inadequate replacement therapy including delayed treatment caused nearly 50% of all deaths. Most patients can be managed satisfactorily with adequate replacement therapy alone, with surgery being reserved for those with worsening neurological conditions.

Allogeneic hematopoietic SCT performed in non-HEPA filter rooms: initial experience from a single center in India

In developing countries, it is important to ascertain the safety of performing allogeneic hematopoietic SCT (HSCT) in single rooms without high-efficiency particulate air (HEPA) filters. We present our experience of performing 40 such transplants from July 2004 to November 2007. Source of stem cells was peripheral blood in 33, bone marrow in six and combined in one. G-CSF started from day +1. The indications were SAA-18, CML-7, AML-7, ALL-2, myelodysplastic syndrome-2 and thalassemia major-4. The median age was 19 years (range 2.2–46) with 29 male and 11 female participants. Antibacterial and antifungal prophylaxis was administered along with conditioning, and at the onset of fever, systemic antibiotics were started. Antifungal agents were added if fever persisted for 3 days. Median time for neutrophil engraftment was 10 days (range 8–17). Fever occurred in 38 (95%) for a median of 5 days (range 1–38), and blood cultures were positive in seven (17.5%). Systemic antibiotics were used in 95% and antifungals in 57.5% cases. The 30-day mortality was nil, and 100-day mortality was 1 (2.5%). After day 100, there were eight fatalities (20%) due to chronic GVHD-3, relapse-2, graft rejection-2, disseminated tuberculosis and aspergillosis-1. Our experience suggests that allogeneic HSCT can be safely performed in non-HEPA filter rooms in India.

Prevalance of iron deficiency in thalassemia minor: a study from tertiary hospital.

Conflicting data are available about iron metabolism in thalassemia minors. As iron deficiency prevails largely in India, a study of 150 people was conducted to assess the iron level of β thalassemia minor. The study population comprises of 59 males and 91 female who either attended outdoor services and with diagnosed thalassemia minor by hemoglobin high performance liquid chromatography or were the parents (diagnosed thalassemia minor) of β Thalassemia patients visiting daycare services for transfusion. 29.67% females and 3.38% males are found to be iron deficient. Thus we can conclude that iron deficiency is one of the common co-existing conditions in β thalassemia minors.

Spectrum of complex chromosomal aberrations in a myelodysplastic syndrome and a brief review

Myelodysplastic syndrome (MDS) is a heterogeneous premalignant condition characterized by cytopenia, ineffective hematopoiesis, dysplastic marrow, and risk of progression to acute myeloid leukemia. Cytogenetic abnormalities, including del(3q/5q/7q/11q/12p/20q), monosomy 5/7, trisomy 8/19, i(17q), and -Y, are the indicators of diagnosis and risk stratification. The present case with bicytopenia detected with highly complex chromosome rearrangements with variability in numerical and structural combinations. Chromosome analysis was carried out following unstimulated marrow culture and G-banding. In addition to known MDS-aberrations, der(9p), der(12) dic(12;?19), +15, -18, and ring and marker chromosomes were recorded having, at least, nine abnormal chromosomes/cell. To our knowledge, this is the first case with all MDS-aberrations in one single individual. The case has been discussed in relevance to current MDS research. In the present case, i(17q)/-17, der(12p), del(5q26), del(7q36), and del(20q11) indicate possible alterations in TP53, ETV6, IDH2, EZH2, and SRSF2 genes, which are responsible for pathomechanism, genetic instability, clonal evolution, and advancement of disease condition.

Philadelphia Chromosome-Positive Myelodysplastic Syndrome: Is It a Distinct Entity?

RBCs. Neutrophils showed no dysplastic features. Serum vitamin B 12 and folate levels were normal. Bone marrow aspirates were hypercellular for age. The myeloid:erythroid ratio was 3: 1 and there were 4% blasts. More than 10% of megakaryocytes were dysplastic with hypolobated or bilobed nuclei, and micromegakaryocytes ( fig. 1 ). There was no dysplasia in erythroid and Clonal cytogenetic abnormalities occur in 50% of de novo myelodysplastic syndrome (MDS) cases and are of prognostic importance [1] . The Philadelphia (Ph) chromosome is classically associated with chronic myeloid leukemia (CML) and is the disease-defining clonal abnormality. In the current WHO classification system of myeloid neoplasms [1] the presence of the Ph chromosome excludes a myeloid neoplasm from any category of myeloproliferative neoplasm (MPN) or MPN/MDS, other than CML. A very rare cytogenetic abnormality reported to occur in MDS is the Ph chromosome, t9; 22. In most of the cases reported worldwide so far, the Ph chromosome was found in cases of MDS at the time of progression to acute leukemia. We present here a case of Philadelphia chromosomepositive MDS, i.e. a 67-year-old man who had pallor and weakness of 3 months duration requiring red cell transfusions. He had no history of fever or bleeding. There was no significant past history of illness. On examination there was no hepatosplenomegaly or lymphadenopathy. His Hb was 10.4 g/dl, WBC count 2.7 ! 10 9 /l, platelets 52 ! 10 9 /l, and MCV 98.0 fl. The differential WBC count was neutrophils 20%, lymphocytes 42%, basophils 25%, monocytes 3%, eosinophils 6%, and myelocytes 4%. No blasts were present in the peripheral smear. RBCs were normocytic normochromic with occasional nucleated Received: June 12, 2012 Accepted after revision: October 18, 2012 Published online: January 3, 2013

An unusual presentation of eosinophilic variant of chronic myeloid leukemia (eoCML)

Dear Editor, Eosinophilia, a common sign of chronic myeloid leukemia (CML) and often used as one of the criteria for accelerated phase, but there is paucity of literature with eosinophilia as the only presentation of CML. Whether these patients clinically resemble with other hypereosinophilic syndromes (HESs) is not known. High eosinophil count can cause heart, lung, and central nervous system damage in both the eosiniphilic variant of CML (eoCML) and HES. Superficial venous thrombophlebitis (SVT) is usually a benign disorder but can be the first manifestation of hypercoagulable states. Secondary causes of SVT must be sought, particularly when SVT is recurrent or multifocal or has spontaneous onset. Among the various risk factors of SVT, vasculitis, malignant blood disorders, and solid tumors are the commonest. Association of eosinophilia with SVT is a rare situation that can reveal neoplasia, but it has never been described in eoCML, which prompted present communication. A 55-year-old man presented with a history of recurrent subcutaneous swelling of the right upper limb and anterior chest wall for 3 months. Each time, the swelling used to last from a few days to few weeks. There was history of itching and sometimes pain over the swollen area. There was no response to therapy with antihistaminics or analgesics. On examination, there was ill-defined erythematous swelling, with local rise of temperature over the right forearm extending to anterior chest wall. There were palpable, hardened, and painful erythematous veins over the right forearm. Vital signs were stable. Chest and neck examination was remarkable. Therewas no lymphadenopathy or hepatosplenomegaly. Hemogram showed white blood cell count of 12,300/mm with 10% neutrophils, 5% lymphocytes, and 85% eosinophils. The absolute eosinophil count was 10,455/mm. His peripheral blood picture revealed only eosinophilic leukocytosis with normocytic normochromic red blood cells and adequate platelets. Ultrasound color Doppler showed multiple foci of superficial vein thrombosis in the swollen areas without any evidence of deep-vein thrombosis. Magnetic resonance imaging of the right upper limb showed extensive subcutaneous and intramuscular edema with superficial thrombophlebitis. He was further investigated for causes of eosinophilia and recurrent superficial thrombophlebitis. Stool culture for ova and parasites were negative. Chest X-ray and contrast-enhanced computed tomography of the chest and abdomen were normal. Serum carcinoembryonic antigen and prostate-specific antigen levels were also normal. His lipid profile, antinuclear antibodies, anticardiolipin antibodies, lupus anticoagulant, protein S, protein C, and homocysteine levels were also found to be within normal limits. Echocardiography revealed early features of endomyocardial fibrosis, and pulmonary function test was normal. Bone marrow aspirate and biopsy showed a hypercellular marrow with myeloid hyperplasia and increased number of eosinophilic precursors. His peripheral blood and bone marrow aspirate was sent for reverse transcriptase polymerase chain reaction for FIP1L1-PDGFRα and bcr–abl, for detection of any clonal abnormality. The hybrid transcript for FIP1L1-PDGFRα was absent. At presentation, the patient’s BCR–ABL/ABL ratio was 10%. Fluorescent in situ hybridization was performed for BCR/ABL gene fusion, which showed that 60% of cells were positive for this gene rearrangement. On the basis of clonal evidence, a diagnosis of eoCML was made. The patient was started with imatinib mesylate 400 mg/day, and within 4 weeks of therapy, his Ann Hematol (2009) 88:89–90 DOI 10.1007/s00277-008-0545-1

Multi-organ failure due to Mycobacterium tuberculosis and Aspergillus flavus infection after allogeneic bone marrow transplantation.

Mycobacterium tuberculosis (MT) is a serious, but rare infectious complication after allogeneic bone marrow transplantation (BMT). We describe a case of fatal sepsis due to MT and Aspergillus flavus after allogeneic BMT for Aplastic Anemia. The diagnosis was made on bone marrow biopsy and asitic fluid culture. Broadspectrum antituberculous and Amphotericin B therapy was started immediately after diagnosis. The patient developed severe hypoxia and finally died of multi-organ failure. Rapid progression of mycobacterial infection as well as fungal infection should be considered in patients post BMT with unexplained fever, particularly in patients from endemic areas.

Early diagnosis and prompt therapy can save one's eye

Myeloid sarcoma (MS) also known as granulocytic sarcoma or chloroma, is a rare extramedullary tumor of immature myeloid cells. MS is reported in 2.5-9.1% of patients with acute myeloid leukemia (AML) and occurs concomitantly, following or rarely, antedating the onset of systemic bone marrow leukemia. Orbital involvement by acute MS is relatively rare. However, in the setting of simultaneous bilateral orbital tumors in children, MS appears to be a highly likely, if not the most likely, diagnostic possibility. Any child with an orbital mass of uncertain origin, particularly if it is a bilateral, should undergo prompt evaluation for underlying AML. Early diagnosis and prompt therapy can save one′s eyes.

Primary bone lymphoma with multifocal osteolytic lesions: a rare case report with review of literature.

TO THE EDITOR: Primary non-Hodgkin lymphoma (NHL) of bone is a rare disorder [1]. Primary bone lymphoma involving multiple sites is even rarer and in the majority of cases, the diagnosis is diffuse large B-cell lymphoma (DLBCL). Here we report the case of a young patient with unexplained diffuse bone pain that was diagnosed as primary bone lymphoma (B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma) with multifocal osteolytic lesions.

Lenalidomide-Induced Pure Red Cell Aplasia

Pure red cell aplasia (PRCA) is a bone marrow failure disorder. Several drugs have been reported as having induced PRCA, but lenalidomide-induced PRCA is rarely reported. Here we present a patient with myelodysplastic syndrome (MDS) who developed PRCA after treatment with lenalidomide.A 47-year-old male presented with a history of weakness with effort intolerance for 5 months. Examination showed pallor and mild splenomegaly. Blood count showed Hb level of 86 g/L, total WBC count of 5.2x10