Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children with chronic illness live with the specific consequences of their illness, as well as secondary endocrine abnormalities that further compromise growth and pubertal development. These secondary abnormalities may significantly add to their physiologic and psychological burden. Although these endocrine abnormalities theoretically arise as adaptations to the chronic illness, they may have deleterious effects if they persist untreated. Children with HIV infection and other wasting disorders, for example, show growth suppression out of proportion to the severity of their primary illness as a result of growth hormone resistance and enhanced cortisol secretion. In hematologic conditions such as sickle cell anemia, thalassemia, or bone marrow transplant, damage to the hypothalamus and/or pituitary may lead to growth hormone deficiency, gonadal insufficiency, and hypothyroidism. Growth and pubertal delay are also common among children with cystic fibrosis, along with insulin-dependent diabetes mellitus caused by pancreatic fibrosis. Similarly, children receiving long-term steroid therapy have delays in growth and pubertal development, accompanied by risk for osteoporosis, whereas chronic renal disease is associated with growth and pubertal delay, as well as secondary hyperparathyroidism. Recognition of potential endocrinopathies in children with chronic illness is an important aspect of the care of these children because the disturbances are frequently amenable to treatment, permitting full or partial restoration of normal growth and development in these children. In this chapter, the endocrine consequences of common chronic conditions of childhood are reviewed, as well as the etiology of the endocrine disturbance, the clinical consequences, and recommendations for treatment.
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PMID:Advances in the recognition and treatment of endocrine complications in children with chronic illness. 1064 63

All patients presenting with hereditary hemolytic anemia, (n = 143) over a period of 18 months were enrolled in a study to evaluate the prevalence of hepatitis B, hepatitis C and HIV in multi-transfused patients in Jordan, and to identify possible related risk factors. All patients were treated in the Thalassemia Unit at Princess Rahma Teaching Hospital. Relevant clinical data were collected. Blood specimens were taken from these patients and tested for HbsAg, HbsAb, hepatitis core IgMAb, hepatitis core IgGAb, HCVAb, and ELISA for HIV. Fifty-eight (40.5 per cent) of the specimens were HCVAb positive, while only five (3.5 per cent) of them were positive for HBsAg. None of the specimens were positive for HIV. The frequency of blood transfusion and the time of diagnosis before or after 1995, were investigated as possible risk factors for viral seropositivity. Only the time of diagnosis was a statistically significant risk factor for HCVAb positivity (OR = 4.49; p = 0.005). In conclusion, hepatitis C acquisition is a serious risk for multi-transfused patients in Jordan. Hepatitis B is relatively less common. Blood screening initiated after 1995 in Jordan has significantly reduced the risk of hepatitis C associated with blood transfusion.
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PMID:The prevalence of hepatitis B, hepatitis C and human immune deficiency virus markers in multi-transfused patients. 1152 66

Homozygosity or compound heterozygosity for beta(0)-thalassemia mutations most commonly results in a transfusion-dependent thalassemia major phenotype. In this report, we describe a 55-year-old male, from Guinea-Bissau, that had been asymptomatic and never transfused until being admitted to hospital with anemia, fever, splenomegaly, and asthenia. Following hospital admission, HIV-2 and Mycobacterium tuberculosis infections were diagnosed, and biochemical and molecular studies revealed homozygosity for beta(0)-thalassemia. At the molecular level, this is the first description of homozygosity for the beta(0)-Black 1,393-bp deletion. In this case, the complete absence of beta-globin gene expression seems to be compensated by an unusually high fetal globin gene expression (Hb F 96%). Beta-globin haplotyping results were compatible with the propositus being homozygous for the Black 2 haplotype and for the absence of the XmnI polymorphism at -158 of (G)gamma-globin gene (-/-). Co-inheritance of genetic factors usually associated with high Hb F levels was not detected. Otherwise, the propositus is a heterozygote for the alpha-globin gene 3.7-kb deletion that is a beneficial modulating factor but not sufficient to explain this extremely mild phenotype. This unusual genotype/phenotype association is discussed in terms of the mechanisms underlying hemoglobin switching during development.
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PMID:Asymptomatic homozygous deletional beta(0)-thalassemia in an African individual. 1211 69

Prenatal administration of iron and folate can prevent nutritional anemia and boost the hemoglobin of those who are already anemic, strengthening women for delivery and building their resistance against infection. Regular screening is needed, since women with more than mild anemia need additional treatment. Ideally a woman should have a hemoglobin level of at least 110 g/l by the time of delivery. Many lack the iron stores they need for pregnancy, delivery, and lactation. Yet prenatal administration of oral iron supplements could give them higher hemoglobin levels and adequate stores. Folate deficiency is less important as a cause of anemia than lack of iron, but folate needs are increased by malaria, thalassemia, and sickle cell disease. Malaria causes severe complications in pregnancy, and studies from sub-Saharan Africa report malaria parasite rates 30-40% higher in primigravidae than in nonpregnant women. Persistent infection increases the level of anemia. Where intestinal parasites are common, anthelmintic drugs should be routinely given to all pregnant women. The transmission of HIV by blood transfusion makes it more urgent to prevent anemia and avoid the need for blood transfusions. According to a WHO document in southern Asia, 75% of pregnant women are anemic compared with 17% in Europe and North America. In Africa, 50% of pregnant women are anemic, as are 39% in Latin America and 71% Oceania (excluding Australia and New Zealand). Moderate anemia (70-109 g/l) is estimated to be present in 25-33% of pregnant women, with the highest prevalence in Southern Asia, Oceania, and Sub-Saharan Africa. Surveys show that from 3-7% of women suffer from severe anemia 70 g/l), which carries a high risk of death from heart failure. In pregnant women, even the relatively small blood loss associated with a normal delivery can result in death.
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PMID:Anaemia -- the weak get weaker. 1228 38

Infection is the main factor of morbidity and mortality in children with sickle cell disease (SCD). The objective of this study is to determine it's epidemiologic outline in senegalese children and adolescents with SCD. We retrospectively studied infection data in all the charts of a cohort of 323 patients with SCD (307 SS, 13 SC and 3 s beta + thalassemia) followed at Albert Royer children hospital from january 1991 to december 1997. Serum sampling was systematically made for HIV and antigen HBs serology in all patients we received in the last 3 months (october to december 1997). Patients were aged from 5 months to 22 years (medium age = 8 years). 813 infection episodes were diagnosed, concerning 184 patients (56 per cent). SS patients were more affected (59 per cent) than the others (23 per cent, p = 0.04). ENT and broncho-pulmonary onsets were more frequent but had a generally benign course. Menigitidis, septicemia and osteomyelitis were exclusively diagnosed in SS patients. Their prevalences in this group were respectively: 1.0 per cent, 4.9 per cent and 9.8 per cent. HIV serology was determined in 155 patients, including 41 per cent with blood transfusion antecedents. All tests were negative. HBs antigen was determined in 104 patients and seroprevalence was 7.7 per cent in the whole group and 6.0 per cent in patients with transfusion antecedents and 7.7 per cent for the others. Plasmodium falciparum malaria onset was observed in 9.6 per cent of our patients and there was no case of cerebral malaria. Infection was involved in 9 of the 11 cases of death. Then infection constitute the major problem in children and adolescents with SCD in Dakar. However prevalences of severe onsets are comparable to data in Europe despite our poor follow up conditions. Senegal haplotype may lead to a good tolerance of SCD. Negative HIV serology and low HBs antigen seroprevalence in transfused patients are attributed to a relatively low level of HIV prevalence in the general population and a good transfusion security in Senegal.
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PMID:[Infections in Senegalese children and adolescents with sickle cell anemia: epidemiological aspects]. 1466 92

The effect of HIV infection on immune response to diphtheria and tetanus primary immunisation was investigated in 24 HIV-1-positive multi-transfused (MT) children with thalassaemia and compared with 48 HIV-1-negative MT thalassaemic children and 36 HIV-1-negative non-transfused (NT) children in the community. Diphtheria and tetanus antibody levels in the HIV-1-positive MT group were comparable with the two HIV-negative groups. The proportions of children with antibody titres below the protective level (i.e. <0.01 IU/ml) for antidiphtheria antibodies were 20.8, 16.6 and 16.6%, and 12.5, 12.5 and 13.9% for anti-tetanus antibodies in the three groups, respectively. On the other hand, delayed-type hypersensitivity (DTH) response to diphtheria and tetanus antigens was significantly depressed in the HIV-1-positive group compared with the HIV-negative controls. The mean percentages of both mature (CD20+) and immature (CD10+) B-cell counts were significantly higher in the HIV-1-positive group than in the HIV-negative MT and NT groups (p<0.05). Levels of serum immunoglobulins and spontaneously secreted immunoglobulins were significantly higher in the HIV-1-positive group compared with both HIV-negative groups. The HIV-1-positive group showed a mean (SD) IL-6 of 52.9 (28.8) pg/ml compared with 23.7 (12.1) pg/ml and a detection rate of 54.2% in the HIV-negative MT group, and 23.6 (8.2) pg/ml and a 50% detection rate in the HIV-negative NT group. The IL-2 level was significantly lower (p<0.05) in the HIV-1-positive group [41.7% detection rate and mean (SD) 28.8 (17.1) pg/ml] than in the HIV-negative MT and NT groups [75% and 83.3% detection rates and mean (SD) 57.2 (42.3) pg/ml and 99.3 (51.1) pg/ml, respectively]. During follow-up for 3 years, the frequency of major infections was significantly higher in the HIV-1-positive group than in the other two groups. Acute pneumonia and acute sinusitis were the predominant infections regardless of HIV status while primary bacteraemia, osteomyelitis, pyogenic meningitis and septic arthritis were common in the HIV-1-positive group. We conclude that, in HIV-1-infected children pre-immunised with DPT, DTH response to diphtheria and tetanus antigens might be more reliable than anti-diphtheria and anti-tetanus antibody levels in predicting susceptibility to major bacterial infections.
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PMID:Immune response in HIV-1-infected children with thalassaemia given a primary course of DPT vaccine before acquiring HIV-1 infection. 1473 76

Hematogenous osteomyelitis (HOM) in adults is a very rare event in industrialised countries. However, in tropical regions the morbidity of HOM is more important, primarily due to the impact of sickle cell disease, thalassemia, HIV-infection and tuberculosis. HOM is most commonly caused by pyogenic bacteria and mycobacteria, but infections by fungi, viruses and parasites must also be considered. In spite of modern diagnostic procedures such as nuclear and magnetic resonance imaging, the histopathologic and microbiologic examination of bone remains the gold standard for diagnosing OM. Other diagnoses should also be considered. Nonbacterial osteomyelitic lesions (plasmacellular OM, sclerosing OM, SAPHO syndrome) as well as acute leukemia, malignant bone tumors (i.e., Ewing's sarcoma, osteosarcoma) are conditions with similar presentations. Acute HOM is best managed by appropriate antibiotic therapy. In case of failure and in chronic HOM, surgical debridement is mandatory.
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PMID:[Hematogenous osteomyelitis in adults]. 1500 52

The ability of lentiviral vectors to transduce and stably integrate their genomes into non-dividing cells was the major reason for the development of the HIV-1 based vector gene delivery system. The first VSV-G pseudotyped lentiviral vectors fulfilled these expectations by ferrying large genetic payloads to non-dividing cells in vitro and in vivo. Here we discuss advances in HIV-1 vector systems which lead to improvement in biosafety, transduction efficiency, longevity and regulation of transgene expression, and vector production. The successful use of the advanced HIV-1 based vector system opened new avenues in establishing transgenic animal models for basic research. Additionally, we describe accomplishments using HIV-1 based vectors to correct pathological courses of incurable diseases in preclinical animal models including Parkinson's disease and beta-thalassemia.
Curr HIV Res 2003 Oct
PMID:HIV-1 vectors: fulfillment of expectations, further advancements, and still a way to go. 1504 28

An increasing number of Southeast Asian immigrants have come to North America. Physicians who care for this population should be aware of the high prevalence of hematologic disorders and develop an approach to their diagnosis and management. Malaria and the hematologic sequelae, glucose-6-phophate dehydrogenase deficiency, the thalassemia syndromes, Southeast Asian ovalocytosis, visceral leishmaniasis, HIV infection, and iron-deficiency anemia, all of which may pertain to these patients, are reviewed in this article.
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PMID:Hematologic problems in immigrants from Southeast Asia. 1551 22

Autologous hematopoietic cells have been used as targets of gene transfer, with applications in inherited disorders, cell therapy, and acquired immunodeficiency. The types of cells include hematopoietic progenitor cells, lymphocytes, and mesenchymal stem cells. The inherited disorders thus far approached in clinical trials include severe combined immunodeficiency, common variable gamma-chain immunodeficiency, chronic granulomatous disease, and Gaucher disease. Preclinical studies are vigorously under way in thalassemia, sickle cell anemia, Wiskott-Aldrich syndrome and Fanconi anemia. Clinical trials of immunological therapy with gene-modified lymphocytes are under study in the treatment of malignancies. Clinical trials using anti-viral strategies for HIV infection in combination with autologous transplantation have begun, with additional approaches being developed. Gene therapy vectors are being developed to eliminate tumor cells contaminating autologous stem cell products. However, the risk of insertional mutagenesis and the potential for development of leukemia was highlighted by the first gene therapy trials in inherited immunodeficiency syndromes that achieved a therapeutic effect. Despite the slow progress of the field to date, there is extraordinary promise for gene therapy in the future.
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PMID:The current status of gene therapy in autologous transplantation. 1626 58


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