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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hematopoiesis is controlled by numerous interdependent humoral and endocrine factors. Erythropoietin (EPO), a hydrophobic sialoglycoproteic hormone, plays a crucial role in the regulation of hematopoiesis, and induces proliferation, maturation and differentiation of the erythroid cell line precursors. Thanks to recombinant DNA techniques, different recombinant hormones can now be produced at low cost and in large amounts. This has led to greater understanding of the pathophysiological factors regulating hematopoiesis. This in turn, hasprompted the search for new therapeutic approaches. EPO might also be used to treat patients with different types of anemia: uremics, newborns, patients with anemia from cancer or myeloproliferative disease, thalassemia, bone marrow transplants, chronic infectious diseases. Besides erythroid cells, EPO affects other blood cell lines, such as myeloid cells, lymphocytes and megakaryocytes. It can also enhance polymorphonuclear cell phagocytosis and reduce macrophage activation, thus modulating the inflammatory process. Hematopoietic and endothelial cells probably have the same origin, and the discovery of eyrthropoietin receptors also on mesangial, myocardial and smooth muscle cells has prompted research into the non-erythropoietic function of the hormone. EPO has an important, direct, hemodynamic and vasoactive effect, which does not depend only on an increase in hematocrit and viscosity. Moreover, EPO and its receptors have been found in the brain, suggesting a role in preventing neuronal death. Finally, the recently discovered interaction between EPO and vascular endothelial growth factor (VEGF), and the ability of EPO to stimulate endothelial cell mitosis and motility may be of importance in neovascularization and wound healing.
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PMID:Recombinant human erythropoietin (rHuEPO): more than just the correction of uremic anemia. 1201 44

Infectious complications constitute the second most common cause of mortality and a main cause of morbidity in beta-thalassemia. Besides the high risk of blood-borne infections associated with multiple transfusions, the increased susceptibility of these patients to infectious diseases has been attributed to a coexistent immune deficiency. Immune abnormalities have also been held responsible for the frequent occurrence of malignancies in beta-thalassemia, especially leukemia and lymphomas. Recent studies on immune competence in beta-thalassemia have revealed numerous quantitative and functional defects, involving T and B lymphocytes, immunoglobulin production, neutrophils and macrophages, chemotaxis, and phagocytosis, as well as the complement system. Regarding pathogenesis, iron overload, a primary complication of both thalassemia itself and transfusion therapy, is thought to be the main precipitating mechanism, due to the important immunoregulatory properties of iron and its binding proteins; iron excess may derange the immune balance in favor of the growth of infectious organisms. Other factors include multiple transfusions, associated with constant allo-antigenic stimulation, as well as with transmission of immunosuppressive viruses; splenectomy, resulting in increased susceptibility to infections by encapsulated bacteria and to immune system modifications; low levels of zinc, another immune regulator; iron chelation therapy, which predisposes to serious infections by yersinia species; and the circulation of abnormal native thalassemic erythrocytes, forming another permanent immune stimulus. Thus surveillance for infections in patients with beta-thalassemia is crucial, while further studies are warranted on immune function abnormalities and the implicated mechanisms.
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PMID:Pathogenetic aspects of immune deficiency associated with beta-thalassemia. 1255 54

The Dutch College of General Practitioners' practice guideline concerning anaemia advises the general practitioner to carry out additional laboratory tests in patients with a decreased haemoglobin level (Hb) in order to establish the cause of the anaemia. In specified cases (premenopausal women with excessive vaginal bleeding and in some children with mild anaemia) these tests may initially be omitted. In these cases iron can be prescribed and, if a child has had an infectious disease within the previous month, to wait one month to see if levels return to normal. In older patients with iron-deficiency anaemia subsequent investigations should be performed in order to rule out gastro-intestinal neoplasm, even if the history and physical examination give no indication of this. In an anaemic patient at risk of thalassaemia trait, haemoglobin electrophoresis or chromatography should be performed if there is microcytosis and a serum ferritine level > 15 micrograms/l.
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PMID:[Summary of the Dutch College of General Practitioners' practice guideline 'Anemia']. 1470 19

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

Prior to European settlement indigenous Australians were hunter-gatherers who lived in geographically isolated small clan groups, also separated by elaborate totemic rules. Today they still reside in isolated communities throughout Australia but many have moved to the cities. They share a high incidence of a range of health problems including cardiovascular disease, renal disease and infectious diseases largely attributed to a change to a more sedentary lifestyle. This paper reviews the haematology of indigenous Australians, including blood count, frequency and causes of anaemia, inherited risk factors for thrombophilia, blood groups and the incidence and types of haematological malignancies. There are some significant genetic differences between indigenous and non-indigenous Australians particularly in the frequency of blood groups, factor V Leiden and prothrombin mutations and presence of -alpha3.7 kb thalassaemia. These findings may have practical therapeutic implications (e.g. HPA phenotype for transfusion therapy and pregnancy risk) and in predicting disease risk. Other differences are acquired, related to lifestyle and living conditions (e.g. eosinophilia secondary to parasitic infections; iron and folate deficiencies), and are largely preventable.
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PMID:The haematology of indigenous Australians. 1576 72

Cambodia is an extremely underdeveloped country in Southeast Asia with a childhood mortality rate of 105/1000 live births. Angkor Hospital for Children is a paediatric teaching hospital in Siem Reap, northwest Cambodia, which serves as the provincial paediatric department but also sees children from provinces throughout northern Cambodia, and with training provided for health workers from all parts of the country. The impact of genetic disease on this paediatric population is discussed, addressing the areas of haematology (including thalassaemia and other haemoglobinopathies, glucose-6-phosphate deficiency and bleeding disorders), multifactorial disorders (cleft palate, congenital heart disease and neural tube defects), and uncommon genetic disorders and chromosomal syndromes. In the future, as low-income countries develop and their burden of infectious disease begins to subside, the contribution of these disorders to paediatric morbidity and mortality will become increasingly apparent. This transition needs to be considered in the allocation of health resources and in the structuring of undergraduate and postgraduate medical education.
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PMID:Genetic disorders in a paediatric hospital in Cambodia. 1609 16

The oomycetous, fungus-like, aquatic organism Pythium insidiosum is the etiologic agent of pythiosis, a life-threatening infectious disease of humans and animals that has been increasingly reported from tropical, subtropical, and temperate countries. Human pythiosis is endemic in Thailand, and most patients present with arteritis, leading to limb amputation and/or death, or cornea ulcer, leading to enucleation. Diagnosis of pythiosis is time-consuming and difficult. Radical surgery is the main treatment for pythiosis because conventional antifungal drugs are ineffective. The aims of this study were to evaluate the use of Western blotting for diagnosis of human pythiosis, to identify specific immunodominant antigens of P. insidiosum, and to increase understanding of humoral immune responses against the pathogen. We performed Western blot analysis on 16 P. insidiosum isolates using 12 pythiosis serum samples. These specimens were derived from human patients with pythiosis who had different forms of infection and lived in different geographic areas throughout Thailand. We have identified a 74-kDa immunodominant antigen in all P. insidiosum isolates tested. The 74-kDa antigen was also recognized by sera from all patients with pythiosis but not by control sera from healthy individuals, patients with thalassemia, and patients with various infectious diseases, indicating that Western blot analysis could facilitate diagnosis of pythiosis. Therefore, the 74-kDa antigen is a potential target for developing rapid serodiagnostic tests as well as a therapeutic vaccine for pythiosis. These advances could lead to early diagnosis and effective treatment, crucial factors for better prognosis for patients with pythiosis.
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PMID:Identification of a novel 74-kiloDalton immunodominant antigen of Pythium insidiosum recognized by sera from human patients with pythiosis. 1667 92

Clinical and hematological characteristics of 14 patients with sickle cell anemia; one heterozygous AS, and 7, with diagnostic of microcytic hypochromic anemia were analyzed. Hemoglobin phenotypes were identified by electrophoresis, fetal hemoglobin was quantificated for alkaline denaturation and the HbA2 for ionic exchange chromatography; -alpha3,7 -thalassemia was detected by mutation identification using polymerase chain reaction (PCR). SS phenotype was confirmed in 10 patients, two were SSF increased, one was SSFincreasedA2increased, and one was ASFincreased (HbF = 2%). The patient diagnosed as AS was SSFincreased (HbF = 21%). AD-patients presented a moderate clinical course of the illness. Five microcytic hypochromic anemia patients were HbAA, one was HbAAA2increased and another HbAAFincreased; those patients present a high hematological and clinical variation. beta-thalassemia was 19%. -alpha3,7-thalassemia was not detected. Infection was most frequent clinical manifestation (respiratory tract infection and intestinal parasitism). These results shows that -alpha3,7-thalassemia are not modulator genetic factors of clinical and hematological manifestations of patients with microcytic hypochromic anemia and sickle cell anemia. We suggest that environmental factors such as respiratory tract infection and intestinal parasitism may be affect the course of illness.
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PMID:[Hematological and clinical profile in sickle cell or thalassemic patients]. 1682 61

Numerous studies have shown that several red blood cell polymorphisms protect against severe malaria. Such a relation is much less clear for mild malaria attacks and for the asymptomatic carriage of Plasmodium falciparum. The impact of red blood cell polymorphisms on the level of parasite density was assessed in a group of 464 Senegalese children from the Sereer ethnic group, studied for 18 months. These genetic factors were also related to the malarial morbidity, investigated during 2 successive transmission seasons among 169 of these children. The frequencies of the host genetic factors in the whole group were 0.52 for blood group O, 0.13 for hemoglobin S, 0.16 for the G6PD A-deficient variant and 0.24 for alpha+-thalassemia (-alpha(3.7) deletion). Hemoglobin S was associated with protection against mild malaria attacks. None of the genetic factors was implicated in a better control of parasite densities. These associations may be particular to this ethnic group due to the specificities of malaria endemicity in this area. The pressure exerted in the area by other non-malarial infectious diseases as well as the genetic heterogeneity of circulating parasites may also contribute to these observations.
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PMID:Red blood cell polymorphisms in relation to Plasmodium falciparum asymptomatic parasite densities and morbidity in Senegal. 1685 49

Chitotriosidase (Chit), a member of the mammalian chitinase family, structurally homologous to chitinases from other species, is synthesized and secreted by specifically activated macrophages. After discovery of a striking increase of plasma Chit activity in serum from Gaucher's disease type I patients, an increasing number of inherited and acquired conditions sharing macrophage activation have been associated with increased Chit activity. In addition to lipid storage disorders, where Chit activity has longer been used as a marker of disease activity and therapeutic response, elevation of plasma Chit may occur in hematological disorders with storage of erythrocyte membrane breakdown products as thalassemia and different systemic infectious diseases sustained by fungi and other pathogens. Recently, increased Chit activity was demonstrated in CNS from patients with different neurological disorders. After a wide range of unwanted stimuli such as those occurring in stroke, multiple sclerosis, and Alzheimer's disease, resident cells like microglia and a few other cell types promptly activate a complex immune cascade which then might be monitored also by measuring Chit activity. The increased activity of Chit, wherever it is documented, represents one ancestral response of innate immunity which may have a wide range of clinical applications.
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PMID:Plasma chitotriosidase in health and pathology. 1760 8


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