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

Iron deficiency anaemia and the thalassemia syndromes, a group of disorders resulting from inherited abnormality of globin chain production, are common causes of anaemia in Thailand, and in the Far East in general. Monitoring erythropoiesis in these patient is very important in evaluating the disease and the response to treatment. Recently, our group has just reported the feasibility in using serum erythropoietin (EPO) for monitoring purposes in thalassemia and demonstrated that the determination of serum EPO can be an alternative choice in the follow up of these conditions. This study reports a cost effectiveness analysis comparing the recently reported radioimmunoassay (RIA) for serum EPO determination and the previously used tool, the reticulocyte count. The study reports a higher detection rate for ineffective erythropoiesis when using serum EPO determination, however, the increased sensitivity is at balanced by a higher unit cost. In this analysis, the cost effectiveness for serum EPO and reticulocyte are 208.33 and 50 baht/detection, respectively. () Therefore, the reticulocyte count is more cost effective and is recommended for routine usage in our current medico-economic setting.
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PMID:Comparison of cost effectiveness between measuring the serum erythropoietin level and reticulocyte count for monitoring thalassemic patients: a note in Thai beta thalassemia/Hb E subjects. 1562 41

In the majority of cases, microcytosis is the result of impaired hemoglobin synthesis. Disorders of iron metabolism and protoporphyrin and heme synthesis, as well as impaired globin synthesis, lead to defective hemoglobin production and to the generation of microcytosis and microcytic anemia. Iron deficiency anemie, anemia of chronic diseases, thalassemias, congenital sideroblastic anemias and homozygous HbE disease are the main representatives of microcytosis and microcytic anemias. Serum iron, total iron binding capacity, transferrin saturation, serum ferritin, serum transferrin receptor, transferrin receptor-ferritin index, and zinc-protoporhyrin concentration in erythrocytes are tests used for assessment of iron deficiency. The convention laboratory test for diagnosing iron deficiency is the measurement of serum ferritin. The most precise method for evaluating body iron stores is the examination for iron on aspirated bone marrow or marrow biopsy. Increased content of Hb A2 over 3.5% is diagnostic for beta-thalassemia. Presence of ringed sideroblasts is characteristic of sideroblastic anemias. Hemoglobin electrophoresis is required for the diagnosis of hemoglobinopathy E. The optimal therapeutic regimen in iron deficiency anemia used in this country is to administer 100 mg of elemental iron twice daily separately from meals. Ferrous sulphate (Ferronat Retard tbl. or Sorbifer Dulures tbl.) which are slow-releasing iron formulations are preferred because of their low cost, high bioavailability and low side-effects. Parenteral iron therapy is justified only in patients who cannot absorb iron, who have blood losses that exceed the maximal absorptive capacity of their intestinal tract or who are totally intolerant of oral iron. However, parenteral iron therapy may be associated with serious and even fatal side-effects.
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PMID:[Microcytic and hypochromic anemias]. 1563 79

Microcytosis is a characteristic laboratory feature for both iron deficiency anemia and thalassemia. It is also infrequently seen in "anemia of chronic disease" that accompanies a spectrum of chronic conditions including rheumatoid arthritis, polymyalgia rheumatica, diabetes mellitus, connective tissue disease, and protracted infection. In addition, there is a well established but pathogenetically obscure association of microcytosis with Hodgkin's lymphoma, Castleman's disease, and renal cell carcinoma. In the current study, we show that microcytosis is a frequent laboratory feature in agnogenic myeloid metaplasia and investigate its clinical relevance in the particular setting.
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PMID:Microcytosis in agnogenic myeloid metaplasia: prevalence and clinical correlates. 1628 7

The maintenance of iron and other essential metal ion balance in humans is based on the presence of homeostatic mechanisms of regulatory absorption, storage, re-utilisation and excretion. There are a number of factors and mechanisms that can affect the level of iron excretion or absorption and overall body iron stores. Net iron loss due to increased iron excretion by comparison to dietary iron absorption is considered as one of the causes of iron deficiency anaemia. Body iron loss greater than normal has been shown in many other conditions. These include the increase in urinary iron excretion observed in iron loaded patients, the substantial reduction in serum ferritin and liver iron of ex-thalassaemia patients several years following bone marrow transplantation and the increase in iron excretion in normal individuals following long term sport activities. There are differences in the metabolism, mode of action, interactions with the iron pools and routes of iron excretion, of the iron chelating drugs deferiprone (L1), deferoxamine and other experimental chelators such as ICL670 in iron-loaded patients. Naturally occurring chelators and some synthetic drugs are known to bind iron and affect iron absorption and excretion. The molecular characteristics of naturally occurring or synthetic chelators can influence other aspects of iron metabolism in addition to iron absorption or excretion. Similar mechanisms and factors can affect the metabolism of other essential metals. The understanding of the mechanisms involved in iron excretion and their overall effects on body iron levels can facilitate the design of new chelators and improved therapeutic protocols for the treatment of conditions of iron and other metal metabolic imbalance and toxicity.
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PMID:Molecular factors and mechanisms affecting iron and other metal excretion or absorption in health and disease: the role of natural and synthetic chelators. 1630 66

Anemia continue to be prevalent among children under five years despite the improvement of socioeconomic and sanitary indicators. The purpose of the present cross-sectorial study is to assess the etiologic factors responsible for anemia. Knowledge of the relative importance of the different causes should form a basis for intervention strategies to prevent and control anemia. The survey covered 955 children under the age of five years, native of two regions with the highest prevalent of anemia, the Southwest and the District of Tunis. The results showed that 29% of children suffered from anemia. About 70% of them were iron deficient. The fractions of the deficiency in vitamin B12 and in folates were insignificant. Only 3% of children had chronic inflammation associated with (and possibly responsible for) their anemia A little fraction of anemia (approximately 5%) was due to thalassemia or drepanocytosis. Picawasan important causal factor of iron deficiency anemia. The parasites identified instool could not cause anemia.
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PMID:[Prevalence and causal factors of anemia in children in Tunisia]. 1638 94

The reference values of the most commonly used parameters in hematology were evaluated in a metaanalysis using practices of a group of major hospitals in Switzerland and in detail review of the literature. Extensive differences of the reference values have been noted being caused mainly by selection of different patient/control collectives. Whenever possible, reference values were separately evaluated for age, gender and race. The reported reference values approximated a Gauss distribution allowing for statistical evaluation accordingly. Due to recent standardization (ICSH and NCCLS), differences caused by instrumentation and preanalytics were found to be of less importance. Our presented validated reference values in hematology should allow for better discrimination of classical hematological disease entities such as an iron deficiency anemia, thalassemia and hemolysis.
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PMID:[Metaanalysis of reference values in hematology]. 1645 Jul 31

Microcytic erythropoiesis in case of anemia is frequently due to iron deficiency or may be due to alpha- and beta- thalassemia trait as a result of increased activity of erythropoiesis. The aim of the present study was to evaluate alterations with regard to the degree of hemoglobinization in reticulocytes in comparison with mature erythrocytes. Iron availability in subjects with anemia resulting from iron deficiency and alpha- or beta- thalassemia was studied by application of conventional as well hemocytometric parameters that have recently become available. Participants of the study were reference subjects (n=75), subjects with iron deficiency anemia (IDA, n=52) and alpha- (n=26) or beta-thalassemia trait (n=24). If compared with the reference group obviously increased RBC counts together with decreased values for RDW-sd and MCHC were established in case of alpha- and beta- thalassemia subjects. Deviations were demonstrated to be more pronounced in case of beta- thalassemia. Accelerated erythropoiesis in the case of subjects with IDA and beta-thalassemia is manifested by detection of increased results for immature reticulocyte counts. In particular in case of beta- thalassemia, elevated reticulocyte counts combined with slightly increased values for ZPP/heme ratio reflect increased activity of erythropoiesis. In the case of subjects with beta-thalassemia serum transferrin concentrations revealed slightly decreased results, whereas serum ferritin and iron concentrations demonstrated a tendency towards higher values if compared with the group of reference subjects. At a definitive MCV level, the hemoglobin content of reticulocytes is decreased in the case of IDA if compared with the alpha- or beta- thalassemia trait. For the ratio of hemoglobin content of reticulocytes and erythrocytes, obviously decreased results are demonstrated in the case of subjects with iron deficiency anemia (1.02 +/- 0.08, mean +/- SD) and in the case of beta-thalassemia (1.06 +/- 0.04) if compared with the group of reference subjects (1.11 +/- 0.02) and a-thalassemia (1.11 +/- 0.07). Evaluation of the hemoglobinization state should be performed by means of pattern recognition in concordance with characteristic profiles for parameters reflecting the actual iron state. In case of therapy the result of intervention can be appropriately monitored by longitudinal follow-up.
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PMID:Hemoglobinization and functional availability of iron for erythropoiesis in case of thalassemia and iron deficiency anemia. 1658 56

Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide. Because of similar red blood cell count parameters and blood picture, it was imperative to develop other measures that would differentially and correctly diagnose these two anemias. Several mathematical formulas and simple RBC indices have been introduced as simple, fast and inexpensive means of providing differential diagnosis for IDA and thalassemia minor. The Objective of this study was to apply and compare nine well-documented discriminant functions on a population of 153 confirmed cases of microcytic anemias (IDA n = 56, beta-thalassemia minor n = 47 and alpha-thalassemia n = 50) and to measure validity using Youden's Index. The results show that England and Fraser (E & F) Index had the highest Youden's Index value (98.2) in correctly differentiating between IDA and alpha- and beta-thalassemia minor, while Shine and Lal Index was found ineffective in differentiating between microcytic anemias in our population. E & F Index showed with great sensitivity and specificity to be the best discriminant function to differentiate between IDA and thalassemia minor cases.
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PMID:Validity assessment of nine discriminant functions used for the differentiation between iron deficiency anemia and thalassemia minor. 1716 36

Although most persons with parvovirus B19 infection are asymptomatic or have mild, nonspecific, cold-like symptoms, several clinical conditions have been linked to the virus. Parvovirus B19 usually infects children and causes the classic "slapped-cheek" rash of erythema infectiosum (fifth disease). The virus is highly infectious and spreads mainly through respiratory droplets. By the time the rash appears, the virus is no longer infectious. The virus also may cause acute or persistent arthropathy and papular, purpuric eruptions on the hands and feet ("gloves and socks" syndrome) in adults. Parvovirus B19 infection can trigger an acute cessation of red blood cell production, causing transient aplastic crisis, chronic red cell aplasia, hydrops fetalis, or congenital anemia. This is even more likely in patients with illnesses that have already shortened the lifespan of erythrocytes (e.g., iron deficiency anemia, human immunodeficiency virus, sickle cell disease, thalassemia, spherocytosis). A clinical diagnosis can be made without laboratory confirmation if erythema infectiosum is present. If laboratory confirmation is needed, serum immunoglobulin M testing is recommended for immunocompetent patients; viral DNA testing is recommended for patients in aplastic crisis and for those who are immunocompromised. Treatment is usually supportive, although some patients may require transfusions or intravenous immune globulin therapy. Most patients recover completely.
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PMID:Clinical presentations of parvovirus B19 infection. 1730 69

alpha-thalassaemia is a common inherited haemoglobin disorder that can cause only mild symptoms in carriers and is often either not diagnosed or mistaken for iron deficiency anaemia in the Netherlands. Although considered rare in North-Europeans, we also regularly observe common and rare defects in this population. It is important to be alert for the mild symptoms of these carriers because compound heterozygous and homozygous combinations can result in intermediate, severe or fatal disease in the progeny of healthy carriers. Using a new technical application, a novel alpha degrees -thalassaemia deletion was recently detected in our laboratories in a propositus of a large Dutch Caucasian family. We report the phenotypic and molecular study of this new form of alpha(o)-thalassaemia (called--(OH)alpha-thalassaemia deletion), which was observed in 10 of the 19 individuals studied in the index family. Our results indicate that the frequency of these unsuspected alpha(o)-thalassaemia defects is probably underestimated in the Netherlands.
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PMID:A new deletion defect leading to alpha-thalassaemia in a large Dutch Caucasian family. 1736 15


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