Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Molecular Medicine and Molecular Pathology are integral parts of Haematology as we enter the new millennium. Their origins can be linked to fundamental developments in the basic sciences, particularly genetics, chemistry and biochemistry. The structure of DNA and the genetic code that it encrypts are the critical starting points to our understanding of these new disciplines. The genetic alphabet is a simple one, consisting of just 4 letters, buts its influence is crucial to human development and differentiation. The concept of a gene is not a new one but the Human Genome Project (a joint world-wide effort to characterise our entire genetic make-up) is providing an invaluable understanding of how genes function in normal cellular processes and pinpointing how disruption of these processes can lead to disease. Transcription and translation are the key events by which our genotype is converted to our phenotype (via a messenger RNA intermediate), producing the myriad proteins and enzymes which populate the cellular factory of our body. Unlike the bacterial or prokaryotic genome, the human genome contains a large amount of non coding DNA (less than 1% of our genome codes for proteins), and our genes are interrupted, with the coding regions or exons separated by non coding introns. Precise removal of the intronic material after transcription (though a process called splicing) is critical for efficient translation to occur. Incorrect splicing can lead to the generation of mutant proteins, which can have a dilaterious effect on the phenotype of the individual. Thus the 100,000-200,000 genes which are present in each cell in our body have a defined control mechanism permitting efficient and appropriate expression of proteins and enzymes and yet a single base change in just one of those genes can lead to diseases such as haemophilia or fanconis anaemia.
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PMID:Molecular Medicine and Molecular Pathology for Haematologists: I. Gene Speak made Easy: An Overview of Genes and Gene Expression. 1139 53

The management of acute and surgical bleeding episodes in children with severe factor VIII or IX deficiency who develop high responding inhibitors presents a major therapeutic challenge to clinicians. Recombinant factor VIIa (rVIIa) is an effective, reliable and safe treatment that can be used to treat acute bleeding episodes prior to commencing an immune tolerance programme and to cover surgical procedures until the immune tolerance programme is successful. In a significant minority of patients, immune tolerance therapy is ineffective and an alternative haemostatic agent such as rVIIa is required for life-long treatment. The present study evaluated the use of rVIIa in a paediatric setting. Twelve children, aged 1-16 years, were treated successfully with rVIIa to prevent surgical bleeding in 20 surgical procedures (19 central venous access device insertion or removal, 1 dental extraction). Minor postoperative haematomata developed in 2 out of 20 cases after regular rVIIa therapy had been discontinued and resolved with a short course of rVIIa in both cases. Three children had six life- or limb-threatening bleeding episodes. All bleeding episodes resolved with regular rVIIa treatment although topical fibrin glue was needed in one child with a frenulum tear. One patient required two red cell transfusions for symptomatic anaemia resulting from two separate bleeding episodes. The rVIIa therapy was well tolerated and there was no evidence of treatment-related complications. We conclude that rVIIa is the treatment of choice for the management of surgery and acute life- or limb-threatening bleeding in children with haemophilia and high responding inhibitors.
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PMID:Recombinant factor VIIa in the management of surgery and acute bleeding episodes in children with haemophilia and high responding inhibitors. 1184 23

The year 2000 saw the first successful treatment of a genetic disorder by gene therapy. Pediatric patients with X-linked severe combined immunodeficiency disorder (SCID-X1) received autologous CD34+ hematopoietic cells following ex vivo gene transfer using a retroviral vector, with subsequent demonstration of improved immune responses. A number of preclinical and clinical studies have been conducted with the aim of developing gene therapy for hemophilia, Fanconi anemia, sickle cell disease, beta-thalassemia, chronic granulomatous disease, and other inherited hematological disorders. The greatest advances in novel approaches toward treatment of hematological disorders have been made in hemophilia, with 3 current phase I clinical trials ongoing. Two trials are investigating the safety and feasibility of utilizing either an ex vivo, non-viral gene transfer technique or an intravenous infusion of a retroviral vector to treat adults with severe hemophilia A (factor VIII deficiency). The third study involves intramuscular administration of an adeno-associated viral (AAV) vector for expression of factor IX in adult patients with hemophilia B. Results from this study and from preclinical studies preceding the trial demonstrate that it is possible to safely administer high doses of a viral vector in vivo.
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PMID:Gene therapy for hereditary hematological disorders. 1217 74

All 302 children treated at the rheumatology clinic of a children's hospital in Santo Domingo between September 1985 and September 1986 were included in a prospective study of the causes of joint pain in children. The 137 girls and 165 boys were grouped in five categories according to the underlying condition. The largest group, reactive arthritic conditions, affected 78 patients (25.9%). 72 of the 78 had rheumatic fever. The second largest category, hematological processes, affected 75 patients (22.6%); 40 of the 75 patients had sickle cell disease, 25 had hemophilia or other conditions, and 8 had neoplasias. 63 patients (20.8%) had infectious processes, including 33 with septic arthritis, 17 with abscesses and cellulitis, 7 with arthritis and osteomyelitis, and 6 with osteomyelitis. Prostration and pain on movement were more pronounced in patients with septic arthritis. 42 children (12.6%) had collagen vascular disease. 32 had juvenile rheumatoid arthritis, 4 had lupus, 3 vasculitis, 2 dermatomyositis, and 1 each had scleroderma and erythum nodosum. 25 patients (8.2%) had a miscellaneous array of other conditions. Sickle cell disease or neoplasia were most likely when anemia was also present. Extreme prostration and signs of inflammation suggested infectious processes. The small joints were primarily affected in juvenile rheumatoid arthritis and sickle cell disease.
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PMID:[Causes of joint pain in children]. 1229 May 50

Indonesia consist of many island inhabited by many ethnic groups with different social economic condition. As in other parts of the world, anemia is still one of the major health problem in Indonesia. The reported anemia prevalence differs in each area and age groups, ranging from 5.4% in well nourished preschool children to 56.3% in primary school children; and 19% to 62.5% in pregnant women. The causes of anemia mostly reported were nutritional like iron deficiency, abnormal hemoglobin besides other conditions. In Cipto Mangunkusumo Hospital as the national referral hospital in Indonesia, in the adults groups, the cause of anemia reported were 14% with iron deficiency, 54% aplastic, 16% hemolytic and 16% other causes. Whereas in the child health department the cause were 29% nutritional deficiency, 31% thalassemia, 10% aplastic, 4% hemolytic and 26% other causes. Thalassemia is quite often reported in Indonesia. In 1955 Lie-Injo first reported the HbE as the most frequently found abnormality among many ethnic groups in Indonesia, ranging from 2.5% to 13.2%. In later studies the prevalence reported varies very much. It was reported as 9.5% in newborns, 22% in pregnant women, and 15.95% to 60% in athletes. The carrier frequency in some areas was between 6-10%, while the pattern of mutation varied widely within each region. Hemophilia cases in Indonesia is still not diagnosed adequately, only 530 cases were reported. The problems were lack of diagnostic laboratories and awareness. As many as 56.9% of the hemophilia patients who received cryoprecipitate were reported positive with HCV antibody. Hematological malignancy is now also became an increasing problem in Indonesia, in child health department the prevalence of leukemia was 57%, and lymphoma 13% among other malignancies. In National Cancer hospital, the prevalence leukemia as diagnosed using morphology and flowcytometry, were 51.4% AML, 19.7% B-ALL, 14.6% T-ALL, 4.5% preB-ALL, with 9.8% cases with co expression, and 30% other malignancies. Due to geographical situation, economic condition and lack of diagnostic laboratory facility many abnormalities were unable to be diagnosed properly.
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PMID:Some hematological problems in Indonesia. 1243 Aug 66

Tagatose, a low-calorie, full-bulk natural sugar, has just attained GRAS (Generally Recognized As Safe) status under U.S. Food and Drug Administration (FDA) regulations, thereby permitting its use as a sweetener in foods and beverages. This paper presents all current aspects of tagatose with respect to demonstrated food and beverage applications and the potential health and medical benefits of this unique substance. Summarized studies are referenced to detailed peer-reviewed papers. The safety studies followed the recommendations in the FDA "Red Book." Results were submitted to an Expert Panel for determination of GRAS status under FDA regulation. Small phase 2 clinical trials showed tagatose to be effective in treating type 2 diabetes. The results, buttressed by the references cited, support the efficacy of the various applications disclosed for tagatose. Tagatose has been found to be safe and efficacious for use as a low-calorie, full-bulk sweetener in a wide variety of foods, beverages, health foods, and dietary supplements. It fills broad, heretofore unmet needs for a low-calorie sweetener in products in which the bulk of sugar is important, such as chocolates, chewing gum, cakes, ice cream, and frosted cereals. Its synergism with high-intensity sweeteners also makes it useful in sodas. Various health and medical benefits are indicated, including the treatment of type 2 diabetes, hyperglycemia, anemia, and hemophilia and the improvement of fetal development.
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PMID:Tagatose, the new GRAS sweetener and health product. 1251 Nov 10

Established in 1923, the Thorndike Memorial Laboratory at Boston City Hospital was the first clinical research laboratory in a municipal hospital in the United States of America. Minot and Castle, who were the second and third directors of the Laboratory, were pioneer haematologists and clinical investigators of the highest calibre who created an atmosphere at the Laboratory that would foster patient-centred research and attract the best physician-scientists to work and train there. The haematology research division of the Laboratory made important original contributions to the understanding of the pathophysiology of anaemia, the mechanisms of red cell and platelet destruction and the phagocytic role of the spleen, the nature of haemoglobin (normal and sickle cell), the nature of haemophilia and its therapy and the early classification of lymphoma. It contributed to the Thorndike Memorial Laboratory's worldwide reputation as a model research laboratory and established its reputation as the birthplace of modern haematology.
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PMID:Boston City Hospital and the Thorndike Memorial Laboratory: the birth of modern haematology. 1271 59

Thrombocytopenia is a common complication in human immunodeficiency virus (HIV)-infected hemophiliacs. The etiology is multifactorial and a majority of the patients with hemophilia exhibit a decreased platelet count within 10 years of seroconversion. Thrombocytopenia in these patients is associated with a high risk of bleeding and death. Thrombotic microangiopathy causing thrombocytopenia in HIV-infected hemophiliacs is extremely rare. We describe an HIV-infected hemophilic patient who presented with bleeding, renal insufficiency, and thrombocytopenia. Platelet transfusion resulted in deterioration of clinical condition. Examination of blood smears demonstrated a microangiopathic process. The patient responded well to plasmapheresis with normalization of platelet and renal function. Thrombotic thrombocytopenic purpura should be suspected in HIV-infected hemophiliacs who present with a new onset of thrombocytopenia and anemia as delay in treatment may result in fatal sequelae.
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PMID:Thrombotic thrombocytopenic purpura: a rare cause of thrombocytopenia in HIV-infected hemophiliacs. 1451 87

von Willebrand disease (vWD) is the most common congenital bleeding disorder in the USA, affecting 1-3% of the population. Previously characterizing the bleeding symptoms in females with type 1 vWD, we evaluated 42 males with type 1 vWD, mean age 16 years (1-64), of whom 24 (57%) presented with bleeding symptoms. The most common initial symptom was postoperative bleeding (26%). The most common bleeding symptoms ever were epistaxis (53%), bruising (50%), postoperative bleeding (47%), haematomas (29%) and oral bleeding (29%). Of postoperative bleeding, ear/nose/throat (44%), dental (17%) and circumcision bleeding (22%) occurred at a median 10 years of age, despite a previous bleeding or family history in 89%. Complications included anaemia in five (12%), neurological sequelae after subdural haematoma and tonsillectomy in two (5%), transfusion-associated hepatitis C in two (5%) and degenerative joint disease after traumatic haemarthroses in one (2%). The bleeding time (BT) was prolonged in 83%, and the ristocetin cofactor (vW:RCoF) and factor VIII (FVIII:C) decreased in 64% and 43%, respectively. Haemarthroses and haematoma formation were associated with a longer activated partial thromboplastin time (APTT) (P < 0.05), and anaemia with a lower FVIII:C (P < 0.05). In 81%, a haemostatic response occurred with 1-8 deamino-d-arginine vasopressin (DDAVP), although, in 13%, surgical intervention was also required to achieve haemostasis. Postoperative bleeding could have been avoided in 89%, if a preoperative past bleeding history or family history had been obtained, and, in at least 94%, if a preoperative BT and APTT had also been performed. The failure to avoid postoperative bleeding and related complications in patients with vWD by taking a personal and family bleeding history constitutes a major public health problem.
Haemophilia 2004 Mar
PMID:Bleeding manifestations in males with von Willebrand disease. 1496 5

A North American registry for rare bleeding disorders [factor (F)II, factor (F)VII, factor (F)X, factor (F)V, factor (F)XIII, fibrinogen deficiencies and dysfibrinogenemias] was established to gather information about disease prevalence, genotyping frequency, diagnostic events, clinical manifestations, treatment and prophylaxis strategies, as well as disease- and treatment-related complications. Questionnaires were sent to 225 hemophilia treatment centers in the USA and Canada. Among 26% of responding centers, 294 individuals [4.4% of the registered children (200/4583) and 2.4% of adults (94/3809)] were diagnosed with one or more of the rare bleeding disorders (RBDs) included in this survey. The ethnic distribution for each disorder paralleled that of the general US population with the exception of the disproportionately large number of Latinos with FII deficiency. Only 5.4% of affected individuals were genotyped. An abnormal preoperative bleeding screen most often led to diagnosis. The most common coagulopathy was FVII deficiency; however, 40% of homozygous patients were asymptomatic. FX and FXIII deficiencies caused the most severe bleeding manifestations. Among all RBDs, the most common sites of bleeding were skin and mucus membranes. Multiple products were used to treat hemorrhage; however, half of the bleeding episodes required no therapy. The majority of patients suffered no long-term complications from hemorrhage. Treatment-related complications included viral seroconversion, anemia, allergic reactions and venous access device-related events. This registry provides the most comprehensive information to date about North American individuals with RBDs and could serve as an important resource for both basic scientist and clinician.
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PMID:Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. 1499 86


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