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

Growth rate, skeletal maturation and thyroid function were measured in fifty thalassaemic children (age 2-13 years) and in fifty controls (matched for sex and age who were not anaemic. Growth retardation was present in several patients during the first years of life and affected almost all subjects examined when they were approaching puberty. Discrepancy between bone and height age in patients was not significantly different from controls. The finding of low T4 and T3 with a high TSH indicated thyroid hypofunction. This finding, already present early in life, did not worsen with increasing age. In beta-thalassaemia hypothyroidism cannot be the cause of retarded growth since there is no relationship between the impairment in thyroid function and severity of growth retardation. In addition, height age was not different from bone age, while a discrepancy is a constant feature of low stature due to hypothyroidism.
 ...
PMID:Growth retardation, skeletal maturation and thyroid function in children with homozygous beta-thalassaemia. 20 91

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
 ...
PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

Seventy-two transfusion-dependent iron loaded thalassemia patients were investigated for thyroid dysfunction by estimating circulating thyroid hormones (T4 and T3) and basal thyroid stimulating hormone (TSH). They were also evaluated for their liver function (biochemically) and iron overload by estimating serum ferritin. Thyroid failure (hypothyroidism) was documented in 14 patients (19.4%). In all, 3 groups were seen, i.e. Group 1: Normal T4, T3, TSH (58 patients: 80.6%); Group 2: Compensated hypothyroidism characterized by normal T4, T3 and raised TSH (9 patients: 12.5%); Group 3: Decompensated hypothyroidism characterized by decreased T4 and increased TSH (5 patients: 6.9%). Interestingly, impaired thyroid function could not be correlated with age, amount of blood transfused, liver dysfunction or degree of iron overload. It is postulated that an inter-play between chronic hypoxia, liver dysfunction and iron overload may be responsible for the thyroid damage.
 ...
PMID:Thyroid dysfunction in multi-transfused iron loaded thalassemia patients. 145 22

The aim of the present study was to investigate the effects of increased haemoglobin (Hb) levels on the thyroid function in patients with beta-thalassaemia major. Basal levels of thyroid hormones (T4, T3) and free thyroid hormones (fT4, fT3), basal TSH concentrations and the TSH responses to a TRH bolus (0.2 mg iv) were studied in ten euthyroid thalassaemic patients, aged 8 to 19 years, and in one 12 years-old thalassaemic girl with primary hypothyroidism. Five euthyroid thalassaemic patients (aged 8 to 12 years), as well as the hypothyroid thalassaemic girl, were prepubertal, whereas five euthyroid thalassaemic patients (aged 15 to 19 years) had delayed puberty. In each patient, the endocrine evaluation was carried out under conditions of low Hb levels (31 days after the last blood transfusion, mean Hb = 9.8 +/- 1.5 g/dl), and 11 days after the transfusion of 2 units packed red blood cells (PRBC). The latter increased significantly Hb concentrations in all the thalassaemic patients (mean Hb = 12.8 +/- 2.5 g/dl, P less than 0.001). Twelve normal prepubertal subjects, aged 6 to 11 years, served as the control group. Before the PRBC transfusion, basal T4, T3, fT4, fT3 and TSH concentrations were similar in euthyroid prepubertal thalassaemic patients (EPT) and in euthyroid patients with delayed puberty (EDPT), and were comparable to those in control subjects. The TSH responses to TRH (TSH peak, area and delta area) observed in EPT patients were similar to those in the EDPT group, but significantly higher in comparison with the normal children.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:A rise in haemoglobin levels may enhance serum triiodothyronine (T3). Concentrations in prepubertal patients with beta-thalassaemia major. 212 31

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0-14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a "normal growth pattern" useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.
 ...
PMID:Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age. 214 77

Possible causes of specific cardiac muscle disease, diagnosis, follow-up and the therapeutic management are discussed on the basis of a series of cases. 8 out of 30 patients who showed the clinical picture of dilative cardiomyopathy (DCM) were found to have a specific cardiac muscle disease. 4 patients had DCM following adriamycin therapy. Fibromuscular dysplasia with renal hypertension, thalassaemia major with secondary haemosiderosis, long-overlooked and untreated athyroidism each caused one case of dilative specific cardiac muscle disease. Once DCM was preceded by the Kawasaki syndrome for over 2 years. Amongst 47 patients with hypertrophic cardiomyopathy there were two children who had undergone ACTH treatment, 6 children born of diabetic mothers, 4 cases of Pompe's disease, and one patient with hypothyroidism resulting in reversible hypertrophy of the cardiac muscle. Different neurodegenerative diseases were associated with cardiac muscle disease in 4 cases, partly dictating the clinical course. Extremely rare was the development over 6 years of cardiac hypertrophy following a burns injury.
 ...
PMID:[Secondary diseases of the heart muscle and their differential diagnosis in childhood]. 253 13

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
 ...
PMID:[Iron chelation in children]. 268 51

Iron chelation therapy must be associated with the regular blood transfusions required for thalassaemia and other chronic anemias. We report here a study concerning 4 groups of patients, aged 6 to 28, regularly transfused at Necker Enfants-Malades hospital: a) 20 with thalassaemia major; b) 6 with thalassaemia intermedia; c) 2 with sickle cell disease and d) 2 with Blackfan-Diamond syndrome. The transfusion regimen consisting of monthly or quarterly transfusions varied as a function of the groups. Desferal was used in all patients. The dosage and the route of administration (IV, IM, SC) were adapted to the amount of iron transfused and to the nature of the disease. The serum ferritin level was considered as the indicator of the iron overload. Comparisons were established between the quantities of iron transfused, ferritin levels, and parameters such as dosage, route of administration and compliance to Desferal. During the period of study 3 patients died from cardiac failure due to transfusional hemosiderosis. Endocrine complications (diabetes 2 cases, hypocalcemia 3 cases, hypothyroidism 1 case and delayed puberty 7 cases) were observed. This high incidence of complications induced by post-transfusional iron overload has recently prompted us to improve the quality of chelation therapy through the use of the services of a specialized center where patients as well as their families can be trained more adequately in home care and self-treatment.
 ...
PMID:[Treatment of post-transfusion iron overload by deferoxamine]. 273 4

Abnormal haemoglobins produce a variety of anaemias which range in effect from being very mild to lethal. The most common of these are the sickle cell disorders and thalassaemias. In London, thalassaemia affects 3.5% of the Maltese population, 2.5% of the Italian population and 1.5% of the West Indian population respectively. Seventeen per cent of the Cypriot population carry a thalassaemia gene. Sickle cell disease occurs in 500:100,000 people in Britain's black population but is not exclusive to people of Afro-Caribbean origin. The gene is carried by 1 in 10 people. Sickle cell disease is statistically more prevalent among the host population than is phenylketonuria (10-12:100,000), hypothyroidism (20:100,000) and cystic fibrosis (62-63:100,000) in the general population. Although these diseases are routinely screened for at birth, there is no general strategy among district health authorities for sickle cell screening. It has been shown that of 76 health districts with a 3+% ethnic minority population, 30 of which have an ethnic minority population of 'over 10%', only 6 have a comprehensive health care policy for people with sickle cell disease.
 ...
PMID:Sickle cell disease: implications for nursing care. 364 62

We studied the electrophoretic pattern of hemoglobin (Hb) and red blood cell indices in 128 women divided into four groups: group I, 36 nonanemic hyperthyroid women, divided in two subgroups: 36 with untreated hyperthyroidism (subgroup IA) and 9 made euthyroid by antithyroid drug therapy (subgroup IB); group II, 12 nonanemic women with untreated hypothyroidism; group III, 30 women known to be heterozygous for beta-thalassemia; and group IV, 50 healthy women. The mean (+/- SEM) HbA2 level was higher (P less than 0.001) in subgroup IA (3.21 +/- 0.06%) than in subgroup IB (2.42 +/- 0.09%) and group IV (2.48 +/- 0.04%), but lower (P less than 0.001) than in group III (5.26 +/- 0.12%). The mean HbA2 level was lower (P less than 0.001) in group II (1.99 +/- 0.08%) than in group IV. Hb fetal was detectable in eight patients of subgroup IA and undetectable in subgroup IB and groups II and IV. The mean cellular volume was lower (P less than 0.001) in subgroup IA than in other nonanemic groups. The mean cellular volume was higher (P less than 0.001) in group II than in group IV. Follow-up of nine patients who became euthyroid with treatment showed the normalization of these erythrocyte parameters. These results suggest that thyroid hormones can modulate the synthesis of delta- and gamma-globin chains.
 ...
PMID:Influence of thyroid status on hemoglobin A2 expression. 619 Aug 36


1 2 3 4 5 6 7 8 9 Next >>