The X-linked inherited coagulation disorders, hemophilia A (Factor VIII deficiency) and hemophilia B (factor IX deficiency), together with Von Willebrand disease comprise 95 to 97 percent of all the Inherited deficiencies of coagulation factors. (1,2) Replacement of the deficient factor is the mainstay of treatment; it may be "on demand" or "prophylactic" to prevent hemarthrosis in severe deficiency. The prevalence of hemophilia A is 1 in 5000 and that of hemophilia B is 1 in 30,000 (3,4) male live births and Von Willebrand disease with over all prevalence in the general population being 1:100. (4) Clinically both the deficiencies present as a lifelong bleeding disorder with considerable morbidity due to crippling arthropathy. Most common cause of death in these patients is Intra Cerebral Hemorrhage. Hemophilia A and B can only be distinguished on the basis of specific coagulation Factor VIII or IX assays. AIM: The present study was conducted with the aim to study the clinico-hematological profile of Persons With Hemophilia(PWH), their clinical presentations, incidence of inhibitors, estimating the burden of transfusion related complications at our hemophilia care center and to compare the findings with other studies of similar nature MATERIAL & METHOD: This retrospective study was conducted in the Department of Pathology in collaboration with Hemophilia Care Centre at Gandhi Medical College, Bhopal during the period of August 2003 to July 2013. Diagnosis was made on the basis of history, physical examination and laboratory investigations such as bleeding time (BT), Prothrombin time (PT), Activated Partial Thromboplastin Time (APTT),correction studies(factor VIII and factor IX estimation whenever possible). CONCLUSION: Bleeding after injury is obvious in healthy people but difficult to decide, when it is due to bleeding disorder. Serious congenital conditions e. g. severe hemophilia becomes obvious in early childhood but may be misdiagnosed as non-accidental injury, whereas mild cases may go undetected till later years especially those who have not undergone surgery in early adult life. Presence of hemarthrosis, bruises, hematoma either spontaneous or traumatic in an otherwise normal child should warrants for investigating in the line of hemophilia. Repeated episodes early in life show severe hemophilia. Most common cause of death was found Intra Cerebral Hemorrhage (ICH).
BACKGROUND Anaemia is a disease of low erythrocyte count and haemoglobin (Hb) concentration less than the normal range. The main causes of anaemia are a decrease in RBCs, their destruction and decrease of Hb synthesis. A useful method for diagnosis and classification of anaemias is based on the morphological appearance of RBCs on an ideal stained blood smear. The main terms used in such classification are normocytic normochromic, microcytic hypochromic and macrocytic anaemia. In general, microcytic hypochromic anaemias are caused by reduced haemoglobin synthesis (most commonly because of iron deficiency), while macrocytic anaemias caused by reduced DNA synthesis that impair the maturation of erythroid precursors in the bone marrow. Normocytic normochromic anaemias have diverse aetiologies; in some of these anaemias, specific abnormalities of red cell size and shape which is best appreciated through visual inspection of peripheral smears provide an important clue as to cause. METHODS Retrospectively and prospectively we evaluated the results of complete blood count (CBC) and peripheral blood picture (PBP) of all anaemic patients attending during the year 2018 (from 1st January to 31st December), in the Department of Pathology, Gandhi Medical College, Bhopal (M.P.). RESULTS Out of a total of 500 patients, 220 were males and 280 were females. Results of CBC and PBP showed that 145 (29%), 275 (55%) and 80 (18%) of the patients had normocytic normochromic, microcytic hypochromic and macrocytic pattern of anaemia respectively. CONCLUSIONS The microcytic hypochromic pattern of anaemia is highly frequent among this sample of patients while the macrocytic pattern of anaemia is the lowest. According to gender groups, microcytic hypochromic pattern of anaemia is more common among females; malnutrition, increase of blood loss due to pregnancy or menstruation, and lack of iron absorption are the main causes, while the normocytic normochromic anaemia is highly prevalent among males, which is mainly due to blood loss or chronic diseases.
BACKGROUND:Iron absorption is carefully regulated to maintain equilibrium between the absorption and the body loss of iron. Thalassemia is a genetic disorder of hemoglobin synthesis requiring regular blood transfusion leading to iron overload in the body which leads to morbidity and mortality in these patients. AIMS AND OBJECTIVES: To demonstrate iron overload at an early stage by exfoliative cytology using Perls' Prussian blue method and to compare with that of serum ferritin levels of those patients. MATERIALS AND METHODS: Smears were obtained from buccal mucosa of 60 thalassemia major patients who were undergoing repeated blood transfusion and 30 healthy subjects as control. Scrapings were obtained from the buccal mucosa and stained with Perls' Prussian blue stain and were examined under light microscope. RESULT: Perls' positivity was observed in 61.6% of thalassemic patients with a moderately positive correlation to serum ferritin levels. CONCLUSION: Exfoliative cytology is a simple painless and a non-invasive technique therefore it can be used as a diagnostic tool in demonstration of iron overload in thalassemic patients.
BACKGROUND Haemophilia A and haemophilia B are the commonest form of haemophilia encountered and they result from a defect in Factor VIII and Factor IX gene respectively. This hinders the process of haemostasis and predisposing haemophiliacs to spontaneous or post traumatic bleeding. We wanted to study the clinico-haematological profile of patients with haemophilia. METHODS This observational study was conducted in Gandhi Medical College and Associated Hamidia Hospital, Bhopal, during the period of March 2017 to June 2018. After clinical evaluation, patients were subjected to a battery of coagulation tests (Bleeding Time, Prothrombin Time, Activated Partial Thromboplastin Time, Correction Studies and whenever possible, Specific Coagulation Factor Assay). The results were analysed. RESULTS During the study period, 100 patients of haemophilia were studied. Majority of patients were of haemophilia A (89%). Most common age group was 6-15 years (49%) and mean age was 19.02±12.58 years. Most common age of onset was <1 year (62%). Positive family history was present in 57% of cases. 52% patients had severe haemophilia. Most common presentation was haemarthrosis & knee joint was the most common joint involved. APTT was prolonged in all cases. CONCLUSIONS Haemophiliacs are distributed worldwide and have heterogeneous presentation depending upon disease severity. Knowledge of the spectrum of presentation of haemophilia in the population helps in early diagnosis and management planning. Promotion of regular availability of factor concentrate, establishing comprehensive care center and positive public awareness along with good haematology laboratory will help in achieving outcome comparable to that of developed countries.
BACKGROUND Dimorphic anaemia is very common in India. Dimorphism indicates the presence of two distinct populations of red cells. The term is most often applied when there is one population of hypochromic, microcytic cells and another population of normochromic cells, either normocytic or macrocytic. Aims and Objectives-1. Dimorphic anaemia has been studied, because treatment may be ineffective if the dual deficiency is not diagnosed. 2. To correlate and compare the clinico-haematological, biochemical parameters with bone marrow study. 3. To find out the clinical and haematological features of severe anaemia with bone marrow study. MATERIALS AND METHODS This descriptive study included 51 cases of dimorphic anaemia to evaluate association of biochemical profile of dimorphic anaemia with bone marrow study. Data collected from case files, patient history, clinical profile, peripheral blood findings, haematological parameters, bone marrow aspiration and biochemical parameters. RESULTS In our study, dimorphic anaemia (DA) was mostly found in 15-30 years of age. The male-to-female ratio was 1.5: 1 in our study. The most common clinical presentation was pallor and generalised weakness (100%) followed by easy fatigability (72.5%), fever (54.90%), altered behaviour (19.6%) and tingling (8%) are found. Bleeding (13.7%), itching and red spots (13.7%) are found in patients having thrombocytopenia. DA was found mostly in vegetarians (62.7%). The mean haemoglobin was 6.6 gm/dL. Splenomegaly and hepatomegaly were present in 35.2% and 23.5% respectively. There was complete correlation between three parameters in 8/51 (15.68%) cases only. CONCLUSION Bone marrow examination provides rapid and cost-effective investigation for confirming the diagnosis of dimorphic anaemia by reliably assessing the iron stores. Serum ferritin is more specific in predicting the iron deficiency. Serum vitamin B12 and serum folate are also specific, but not sensitive.
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