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)

Many complex forces are at work during adolescence which can contribute to the occurrence of anemia. Careful consideration of the entire patient should enable a physician to identify the unusual as well as the more common causes of anemia in this age group. Anemia in teenage girls is primarily due to menstrual iron loss. In boys, borderline diets and the demands of rapid growth predominate as causative factors. Hemoglobinopathies (thalassemia, sickle cell disease), G6PD deficiency, infectious mononucleosis, and illicit drug use account for small proportions of cases.
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PMID:Anemia in adolescence. 2. Hemoglobinopathies and other causes. 110 36

The absolute hemoglobin A2 concentration in mg. per 100 ml. of blood was calculated from the hemoglobin level in Gm. per 100 ml. and hemoglobin A2 percentage for 38 patients with documented iron deficiency, 37 patients with proven beta-thalassemia minor, 26 patients with simple chronic anemia and 40 normal control laboratory workers. The mean hemoglobin A2 concentration (mg. per 100 ml.) in the control group was 459 plus or minus 60 (2 S.D.) and that in the beta-thalassemia group, 766 plus or minus 99. However, in the iron deficiency group it was 229 plus or minus 58, while in the simple chronic anemia group it was 315 plus or minus 39. The mean corpuscular volume (M.C.V.) in cu. mu was 90 plus or minus 8 (2 S.D.) in the normal controls, 68 plus or minus 10 in beta-thalassemia, 69 plus or minus 9 in iron deficiency, and 90 plus or minus 15 in secondary anemia. It is proposed that the absolute hemoglobin A2 level in mg. per 100 ml. of blood taken in conjunction with the M.C.V. is of value in establishing the diagnosis of iron deficiency.
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PMID:Hemoglobin A2 level. A proposed test for confirming the diagnosis of iron deficiency. 111 45

Thalassaemia minor has been diagnosed in 12 members of two Norwegian families. Haematological data from 23 family members are reported. The diagnosis was based on estimation of Hb A(2) by polyacrylamide gel disc electrophoresis. All patients having high Hb A(2) levels had confirmatory evidence of thalassaemia minor (hypochromic anaemia, marked variation in size and shape of the red cells, target cells, basophilic stippling, decreased osmotic fragility, normal or high serum iron level). The majority of the patients had previously been treated with iron without effect.
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PMID:Thalassaemia minor. Twelve patients in two Norwegian families. 112 58

A Sicilian couple whose first child had homozygous beta-+-thalassemia requiring monthly transfusion requested prenatal diagnosis during the second pregnancy. Fully informed consent was obtained. The placenta was localized by ultra-sound at the 20th week of gestation, and was aspirated with a 20-gauge needle. Samples containing fetal red cells were obtained, and studies of globinchain synthesis showed a normal beta/gamma synthesis ratio for this gestational age. The conclusion that the child was not affected by beta-thalassemia was confirmed when an infant not affected with homozygous of heterozygous beta-thalassemia was born at term. Although more experience with this approach is necessary, this study demonstrates that prenatal diagnosis or exclusion of beta-thalassemia and sickle-cell anemia is feasible.
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PMID:Successful application of prenatal diagnosis in a pregnancy at risk for homozygous beta-thalassemia. 112 53

Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S+alpha-thalassaemia and 7 Hb S with elevated Hb A'2 combinations were found. The beta-thalassaemia gene prevalence was 0.0377. Hb A2 was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among males.
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PMID:Haemoglobinopathy survey in an Eti-Turk village. 115 Feb 94

Erythrocyte survival, fecal stercobilinogen, and the alpha/beta-chain synthesis ratio in recticulocytes and bone marrow (six cases only) were determined and related to the hemoglobin levels in ten heterozygous carriers of beta-thalassemia with different degrees of anemia. Erythrocyte survival values were low, though not related to the degree of anemia, whereas stercobilinogen values and changes in the peripheral blood alpha/beta-chain ratios were so correlated. In the case of bone marrow, on the other hand, the ratio between alpha-chain and beta-chain synthesis was virtually 1, irrespective of the degree of anemia. It is suggested that the severity of anemia in heterozygous carriers is independent of peripheral hemolysis and entirely attributable to destruction of erythroblasts within the marrow.
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PMID:The relationship between anemia, fecal stercobilinogen, erythrocyte survival, and globin synthesis in heterozygotes for beta-thalassemia. 117 4

An efficient, reliable, inexpensive screening test for beta-thalassemia triat is required before the National Cooley's Anemia Control Act can be carried out. Densitometry of hemoglobin samples separated by cellulose acetate has become a routine procedure to quantitate Hb A2 and thereby indicate beta-thalassemia trait carriers. To determine the utility of densitometry in quantitation of Hb A2, we evaluated three densitometers marketed in the United States. Individuals with genetically proved beta-thalassemia trait and normal Hb AA controls were studied. Two analytic procedures (elution and column chromatography) for Hb A2 quantitation were used as reference methods. Densitometry was shown to be unsatisfactory for detecting beta-thalassemia-trait carriers. We recommend that a unified approach to the detection of anemia, which would include thalassemia trait, be developed in the United States rather than free-standing thalassemia screening centers and clinics.
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PMID:Comparison of methodologies for thalassemia screening by Hb A2 quantitation. 118 43

Fifty-two patients with sickle-cell (SC) disease (48 with SC-beta-thalassaemia and 4 with homozygous SC-anaemia) were studied as regards blood coagulation and fibrinolysis. It was found that the thrombin and the reptilase times of the patients' plasma were significantly shorter than normal. The mean values of platelet count, fibrinogen level and factor VIII activity of patients with SC disease were higher than normal; however, in the group of patients transfused, with less than 50% haemoglobin S (HbS), the fibrinogen level and the factor VIII activity were significantly lower compared to the other patients. Antithrombin-III (At-III) activity was normal in all. The fibrinolytic activity was normal in patients with asymptomatic SC disease, but reduced in patients on painful crises. Plasminogen and fibrinogen/fibrin degradation product (FDP) levels were normal in all patients. Two patients on painful crises with complications had additional abnormal findings, namely prolonged prothrombin time, reduced At-III level and elevated FDP.
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PMID:Hypercoagulability and hypofibrinolysis in sickle-cell disease. 120 41

The pilot study was designed to vindicate planning for large-scale detection and management of two parallel genetic blood disorders occurring in large numbers of Mediterranean- and black Americans; the heterozygous minor traits of thalassemia (Cooley's anemia) and sicklemia (sickle-cell anemia). Referred pupils (N=191) matched on schools, age, and learning difficulties associated with learning disabilities were compared as to presumed ethnic origin (n Mediterranean = 80; n black = 64; n "others" = 47) and incidence of trait-related learning and behavioral characteristics. Group mean differences on the study's criteria were found to be significant. Both minor-trait prone groups equally indicated the associative effects, while the control group without tradt-predisposition showed a nonsignificant relationship, thus supporting the hypotheses and the need for large-scale research.
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PMID:Learning and behavioral correlates in learning-disabled pupils prone to heterozygous thalassemia and sicklemia. 120 88

The expression "congenital dyserythropoietic anemia" (CDA) has been used to characterize the kinetic and morphological aberrations in the proliferation and maturation compartment of erythropoiesis, occurring in a group of hereditary anemias of unknown pathogenesis. The main symptoms of these disorders are moderate or mild anemia, increased hemoglobin turnover, ineffectiveness of erythropoiesis, striking morphological aberrations of the erythroblasts and tendency to secondary hemochromatosis. To date, three types have emerged from this group that may be hereditary nosological entities. They are distinguished not only on a morphological basis, but also by different modes of inheritance and immunological properties of the red cell membrane. A number of additional cases or families have been described which could not be attributed to one of these three types. Comparative investigations of morphological, biochemical and immunological details in CDA on the one hand, and other forms of ineffective erythropoiesis (e.g. thalassemia, refractory anemia) on the other demonstrate the lack of specificity of many of the single changes observed in CDA. These changes may well be secondary phenomenon of intramedullary cell destruction brought about by different underlying pathogenetic mechanisms.
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PMID:[Dyserythropoiesis and dyserythropoietic anemias]. 120 18


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