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Inherited deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders, whose severity is directly proportional to the degree of factor deficiency. Platelet and other coagulation factors play an important role in the haemostasis mechanism. We attempted to study the prevalence of inherited platelet function disorders (PFDs) and correlate with other coagulation factor disorders in the Indian population. Patients with PFDs and other coagulation factor disorders who presented at our hospital during the 5 year period (from January, 2001 to December, 2005) were the subjects of the study. A total of 1576 patients were diagnosed to have congenital bleeding disorders including PFDs, von Willebrand disease, haemophilia A and B and rare coagulation disorder cases. Haemophilia A (HA) was the most common and was seen in 52.31% of the patients followed by total PFDs seen in 27.77% of the patients. Based on severity of the disease, the results of PFDs were highly significant when compared to haemophilia and von Willebrand disease (VWD) (p=0.000). Severity was found higher in HA (77.8%) followed by HB (69.6%) and was found lower for PF3 availability defect (9.0%). It has been concluded that the prevalence of PFDs is relatively low as compared to coagulation factors related disorder and also it has been established that type-1 VWD is relatively less frequent in India as compared to the West.

Chronic lymphocytic leukemia (CLL) is the most common form of leukemia in elderly people. The clinico-hematological profile and treatment outcome of patients with CLL were assessed using retrospective case record analysis over 11 years. There were 95 (75 males: 20 females) patients with a median age of 61 years. Thirty patients were aged 55 years or less (young CLL patients) and 65 were more than 55 years of age (elder CLL patients). Sixty percent patients had non-specific complaints, such as weakness, cough and indigestion. Twenty-six (27%) patients had pallor and 24 (25%) had fever as initial presenting manifestation. Bleeding manifestations were seen in 7 patients. Seven patients were diagnosed incidentally. Lymphadenopathy, splenomegaly and hepatomegaly were seen in 52 (55%), 63 (66%) and 60 (63%) patients, respectively. The median white blood cell count and absolute lymphocyte counts were 70,600 and 51,490/mul, respectively. Three patients had autoimmune hemolytic anemia. Twenty-five patients (26%) had anemia with hemoglobin < 11 g/dl and thrombocytopenia with platelet count 100 x 10(3)/mm(3) was seen in 17 (18%). Interstitial nodular, mixed and diffuse bone marrow (BM) involvement was seen in 10.2, 67.3, 6.1 and 16.3% cases, respectively. Eighteen (60%) young patients and 35 (54%) older patients required treatment with chlorambucil. The mean time from initial diagnosis to treatment was 4.6 +/- 10.7 months. None of our patient attained complete response. Six patients obtained partial response. Median duration of chlorambucil was 7 months (1-86 months). Forty-six patients had stable disease. Three patients died. Median survival of study group was 4 years (8 months-13 years). In older CLL it was 4 years (8 months-11 years) and in young patients, survival duration was 5.5 years (1-13 years).

There is an association between inflammation and hemostatic changes that can result in a hypercoagulable state. We report a 34-year-old male who presented with a second episode of deep vein thrombosis. Tuberculosis was diagnosed while looking for secondary causes. The patient was treated with rifampicin, isoniazid, pyrazinamide and ethambutol along with low-molecular-weight heparin and warfarin. Tuberculosis has several mechanisms that induce a hypercoagulable state and can lead to thromboembolic complications.

A 2-year-old boy presented with fever, recurrent infections and multiple skin lesions. He had anemia, eczematous skin lesions, cervical lymph node enlargement, hepatomegaly and lytic lesions on skull x-ray. The skin infiltrates were CD 68, CD 1a positive and S100 positive. He was diagnosed as disseminated langerhans cell histiocytosis. The occurrence of histiocytosis is reviewed and possible treatment is discussed.

Introduction: The limitation of cytogenetic analysis is that the Ph chromosome cannot be detected in clumped metaphase or in interphase cells. Fluorescence in situ hybridization (FISH) is a highly sensitive molecular genetic technique, which enables to detect break point cluster region--Abelson (BCR-ABL) complex and minimal residual disease in all Ph positive CML patients not only in metaphase but also in interphase cells., Aims: To detect Ph chromosome in CML patients by the use of conventional cytogenetics and FISH., Material and Methods: The bone marrow samples were collected in heparinised syringe from 35 diagnosed CML patients and transported to cytogenetic laboratory for chromosomal analysis. Conventional karyotype was prepared by direct harvesting and short-term culture. The FISH analysis was carried out on interphase cells of two patients to confirm the cytogenetic diagnosis., Results: Out of 35 CML patients, 17 (49.9%) were 100% Philadelphia positive, 10(28.5%) were 50-70% Ph+ mosaics and 3(9%) were 100% Ph negative. In 5 patients (14.25%) cytogenetic analysis failed to confirm the presence or absence of Ph chromosome. FISH was carried out in interphase cells from bone marrow preparations of two patients. The signals for BCR-ABL fusion gene was absent in Ph- negative CML patients. In Ph positive patients, the FISH analysis detected BCR-ABL fusion gene seen as a yellow signal on interphase cells., Conclusion: Conventional cytogenetics is a useful method for detection of Ph chromosome in metaphase stage of cell division. FISH can be used in interphase stage of cell division for the same purpose.

The clinico-hematological profile and treatment outcome of patients with autoimmune hemolytic anemia (AIHA) were assessed using a retrospective case record analysis. There were 79 (52 primary; 27 secondary) consecutive patients identified with a median age of 30.5 years. The main presenting complaints were pallor (94%), fever (46%), jaundice (51%), bleeding manifestations (10%) and splenomegaly (68%). Jaundice was much more common in primary (63%) as opposed to secondary (26%) disease. The direct antiglobulin test was negative in six patients. Oral prednisolone produced remission in 87.5% patients. Six patients (three children, three adults) relapsed after a median period of 2 months after response. All of these responded to a second course of steroids, in a median period of 14 days. No correlation was found between response and the parameters of age, sex, jaundice, low pretreatment hemoglobin, reticulocyte count, total leucocyte count (TLC), platelet count, subtype of AIHA and hepatosplenomegaly. Relapse correlated with increased duration between the onset of symptoms and treatment (r = 0.996; p = 0.0001).

Background: Mutations in the HFE gene have been shown to be strongly associated with hereditary haemochromatosis, an autosomal recessive disease of iron overloading. The majority of patients with hereditary haemochromatosis possess a homozygous mutation C282Y that disrupts the binding of the HFE gene with beta2 microglobulin and prevents its surface expression. Another HFE mutation H63D is known to increase the relative risk of developing hereditary haemochromatosis. This disease is rare in India although secondary haemochromatosis is commonly seen among children suffering from thalassaemia major. The status of HFE mutations has not been explored among Indians, particularly in patients with thalassaemia major. It is also possible that in India clinical haemochromatosis could be masked by iron deficiency., Methods: We examined a cohort of 59 unrelated, healthy individuals from north India, 57 from south India and 75 thalassaemia major patients from north India for HFE mutations (C282Y and H63D) in cis/trans by the polymerase chain reaction sequence-specific primer method., Results: The C282Y and H63D mutations in the HFE gene were rare among Indians. Although the HFE mutations were increased among patients of thalassaemia their effect on iron burden or disease pathogenesis remains unclear., Conclusions: Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene. Long-term follow up studies would be required to determine whether the relatively higher frequency of these mutations among patients of thalassaemia has any influence on iron accumulation.

Aplastic anaemia occurring during pregnancy is a rare event and is associated with high maternal and fetal morbidity and mortality. Prognosis is poorer when aplastic anaemia develops during pregnancy and many such patients have an unsuccessful pregnancy outcome. We report two cases of aplastic anaemia associated with pregnancy. Both the patients had very different antenatal course and outcome. Their etiopathogenesis and management is discussed.

A 13-year-old girl with a family history of epistaxis presented with pubertal menorrhagia necessitating multiple blood transfusions. Her coagulation profile confirmed the diagnosis of Von Willebrand disease. The menorrhagia was controlled by cyclical use of oestrogen progestogen combination drugs. The important clinical implication of this case is that the patient with adolescent menorrhagia may have an underlying coagulation disorder, which can successfully be managed by hormones.

The significance of precipitating causes of acute disseminated intra-vascular coagulation (DIC) and the severity of derangement of haemostasis based on laboratory investigations carried out initially were evaluated in 98 patients and was related to the fatal outcome in them. It was seen that septicaemia was the commonest precipitating cause. Survival was better in patients in whom DIC was precipitated by obstetric causes compared with those with septicaemia (P < 0.01). Death was also more frequently associated in patients with higher prothrombin time (PPT) ratio (> 1.5) and/or higher activated partial thromboplastin time (APTT) ratio (> 2.5) as compared to their lower values (P < 0.01 each). Death occurred in all the seventeen patients in whom septicaemia was present along with PPT ratio of > 1.5. It is concluded that deranged haemostasis and presence of septicaemia both independent of each other, contribute to the fatal outcome in acute DIC. Combination of both is associated with poorest prognosis.

Four sisters born to consanguineous muslim parents with a bleeding disorder since birth are presented. They also had prolonged umbilical cord bleeding and history of delayed wound healing. Since childhood, they have been developing spontaneous ecchymotic spots. Three out of four sisters had Factor XIII deficiency. Their mother's sisters, who have been developing ecchymotic spots were found to have normal clot stability and Factor XIII levels. Family study indicates autosomal recessive mode of inheritance of the congenital Factor XIII deficiency.