Gene tracking in a family of novel identical twins affected by severe type-III von Willebrand Disease (vWD).
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Biomedical subjects
Publications and source records attributed to V P Choudhary.
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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).
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.
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.
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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.
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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.
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