Ashish Dixit

Do alpha deletions influence hydroxyurea response in thalassemia intermedia

Abstract Thalassemia intermedia patients show variable phenotypes. Hydroxyurea (HU) may benefit some of the thalassemia intermedia cases (1), however, the parameters influencing the response to HU have not been reported. In this study, the molecular parameters, a-globin and ß-globin genotype and the Xmn I polymorphism, were correlated with the HU response. Twenty patients with thalassemia intermedia were given HU (10–20?mg/kg) and responses were evaluated over a one year period. Twelve patients (60%) showed a good response to therapy with a significant increase in Hb and HbF levels and with elimination of the transfusion requirement in four patients. Four out of the twelve (33%) patients were positive for -a 3.7 deletions whereas none of the 8 non-responders were positive for alpha deletions. One each of the responders and non-responders were positive for aaa anti-3.7 triplication. Three (25%) responsive and one non-responsive patients were homozygous for the IVS1-1 (G?T) mutation. Three of the responsive patients with alpha deletions were also homozygous positive for Xmn I polymorphism. Thus, in addition to acting in synergy with the XmnI polymorphism, alpha deletions may be an independent factor predicting good response to HU in thalassemia intermedia, although this needs to be confirmation in larger studies.

Clinical, haematological and histomorphological profile of adult myelodysplastic syndrome. Study of 96 cases in a single institute

Abstract:  Myelodysplastic syndromes (MDS) are clonal haematopoietic stem cell disorders characterised by ineffective and dyspoietic haematopoiesis. The natural history of these disorders is variable and ranges from a chronic to a rapid course towards leukaemic progression. Certain shortcomings have been encountered in the French–American–British (FAB) classification over the years, and therefore there is a need for an alternative method of classification. In 1999, the WHO published a revised classification of MDS. In the present study, we have analysed the clinical, haematological and histomorphological features in 96 cases of primary MDS seen in the department of haematology at the All India Institute of Medical Sciences (AIIMS) over a 6‐yr period (1996–2001). Both FAB and WHO classifications have been incorporated and the Bournemouth scoring system applied in each case at presentation. The Bournemouth scoring system, in the absence of a cytogenetic study, offers a good prognostication and long‐term survival estimate.

Disseminated Intravascular Coagulation in Acute Leukemia at Presentation and During Induction Therapy

Between January 2001 and December 2003, 67 patients with acute leukemia were evaluated prospectively for hemostatic abnormality at presentation, of which 43 (64.2%) had acute lymphoblastic leukemia and 24 (35.8%) had acute myelogenous leukemia. At presentation, 27 patients (40.3%) had bleeding manifestations. Thrombocytopenia was present in 57 patients (85%), and 33(49.3%) had some abnormality of global coagulation markers. Disseminated intravascular coagulation was defined by International Society of Thrombosis and Hemostasis criteria. Disseminated intravascular coagulation was more often associated with bleeding manifestations in acute myelogenous leukemia cases than in acute lymphoblastic leukemia cases. Two patients presented disseminated intravascular coagulation on day 7 of chemotherapy, without any bleeding manifestations. Four of 15 evaluated cases who had a bleeding or infection complication after day 7 of induction therapy also had disseminated intravascular coagulation. It is recommended that all patients with leukemia be investigated for disseminated intravascular coagulation at presentation.

Hb SE disease: a clinico-hematological profile

Hb S and Hb E are globally common hemoglobinopathies. However, Hb SE double heterozygous state is uncommon, with only 25 cases reported so far in literature. We present two more cases. One presented with gallstones, and the other was asymptomatic. This type of disorder was previously described as a relatively asymptomatic condition compared to HbSS. A review of the 25 reported cases in literature shows that 40.7% (11/27) of these cases are symptomatic. Gender, hematological parameters and levels of Hb S, E or F do not predict clinical severity.

Acquired von Willebrand's disease associated with gastrointestinal angiodysplasia: a case report.

Summary.  Acquired von Willebrand syndrome (AVWS) is a rare and probably underestimated bleeding disorder which mimics most of the clinical symptoms and laboratory features of hereditary von Willebrand disease (VWD) in patients devoid of both personal and family history of bleeding diathesis. In this study, we present a case of 55 yrs male patient, presented with gastrointestinal bleeds since three years, diagnosed to have AVWS with inhibitors. From this study it is concluded that AVWS is rare and it is important to diagnose this bleeding disorder so that appropriate treatment with plasmapheresis and IV:Ig can effectively correct the haemostatic defect and manage severe bleeding in these patients.

Primary myelodysplastic syndrome in children—clinical, hematological and histomorphological profile from a tertiary care centre in India

Abstract We describe the clinical, hematological and histomorphological features in children of primary myelodysplastic syndrome (MDS) seen at the All India Institute of Medical Sciences over three years (Jan 2001–Jan 2004). Twenty-one patients of primary MDS aged 17 year or less were classified using the latest proposed WHO classification for Pediatric MDS. The median age was 9 years with male predominance (80%). Pallor was present in all the cases while fever and bleeding diathesis was present in more than 50% of the cases. Morphological assessment of the peripheral blood showed macrocytosis in 50%, pancytopenia in 15% and blast cells in 45% of cases. A complete analysis of clinical features in conjunction with the bone marrow profile revealed 8 cases of refractory cytopenia (RC), 3 cases of refractory anemia with excess blasts (RAEB), 5 cases of refractory anemia with excess blasts in transformation (RAEB-T), 4 cases of Juvenile myelomonocytic leukemia (JMML) and a solitary cases of acute myeloid leukemia (AML) in Downs syndrome. These children were followed up from 1–36 months (mean 15 months). Three patients of RAEB-T progressed to AML within 3–4 months. RC had the best prognosis and all are alive and under regular follow up. The solitary case of AML of Downs syndrome died 1.5 months after initial diagnosis. All 3 cases of RAEB are under regular follow-up and doing well. Three cases of RAEB-T died (all had progressed to AML); the remaining 2 cases were lost to follow up. Of the 4 cases of JMML 1 died within 6 months of diagnosis; the other 3 cases are under regular follow up of whom 1 has a progressively increasing blast count. We conclude that the latest proposed WHO classification for Pediatric MDS can be successfully applied to all cases of primary MDS.

Disseminated Intravascular Coagulation as an Unusual Presentation of Kala-azar: Report of Two Cases

Kala-azar (visceral leishmaniasis) is a common problem in various well-defined areas of India. It is characterized by fever of long duration, enlarged liver and spleen, anaemia and leucopoenia. Bleeding is an uncommon manifestation of kala-azar. We report 2 cases, in which disseminated intravascular coagulation was an unusual complication.