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)

The two main causes of microcytic and hypochromic anaemia are iron deficiency and thalassaemia traits. Discriminant analysis based on a simple combination of classical red cell indices have been used to differentiate between iron deficiency anaemia and thalassaemia with varying degree of accuracy. Two new indices are now available from modern cell counters: red cell distribution width (RDW) and haemoglobin concentration distribution (HDW). Our discriminant analysis suggests that RBC, MCHC and RDW contribute significantly to the differentiation between iron deficiency anaemia and thalassaemia in both healthy donors and hospital-patient groups. In the discriminating process, previous workers have overlooked the heterogeneity of anaemia between anaemic groups as well as biological differences in MCV and MCH among the alpha and beta thalassaemia subjects. This study took into account of these biases and proved, for the first time, that differentiation between iron deficiency and thalassaemia by discriminant analysis was clinically reliable and not significantly biased by the severity of anaemia. The diagnostic accuracy of discriminant analysis was confirmed retrospectively by the reallocation algorithm using the jack-knife principle and prospectively by testing the discriminant functions on independent new samples. Selection of the red cell indices contributing to the discrimination of microcytic hypochromic anaemia was based on biological and statistical considerations. The clear separation of red cell index data of iron deficiency anaemia and thalassaemia traits was shown 3-dimensionally by surface plots.
 ...
PMID:Discriminant analysis of iron deficiency anaemia and heterozygous thalassaemia traits: a 3-dimensional selection of red cell indices. 177 89

A study of the characteristics of childhood thalassemia was conducted at the Sub Department of Pediatric Hematology, Dr. Pirngadi Hospital from June 1979 to May 1989. There were 131 cases, consisting of 75 (57.25%) boys and 56 (42.75%) girls with an average of 12 admission every year. The predominant age group was 0-2 years, and the youngest was 3 months old. Javanese ethnic group appeared predominant in 36 (63.15%) cases. Clinical symptoms of anemia were found in 112 (85.49%), hepatomegaly in 91 (69.46%), hepatosplenomegaly in 84 (64.12%), without enlargement of organ in 17 (12.97%), and icterus in 6 (4.58%). Hb-Electrophoresis was done in 42 cases, revealing 26 (61.90%) with thalassemia major, 15 (35.71%) Hb E thalassemia, and 1 (2.20%) Hb H thalassemia. Hb value at the first admission in 65 (49.62%) was less than 5 g/dl, in 63 (48.09%) it was 5-10 g/dl and in 3 (2.29%) more than 10 g/dl.
 ...
PMID:The pattern of thalassemia in children at the Department of Child Health, School of Medicine University of North Sumatera/Dr. Pirngadi Hospital, Medan. 178 Jan 65

A screening programme involving 9,822 hospitalised patients revealed the frequency of individuals with S gene to be 11.1 per cent. A population survey of 1,000 randomised subjects from amongst about 70,000 people in one block of the area showed the frequency to be 15.1%. The gene is not confined to tribal peoples, but is prevalent throughout the society, being more frequent in scheduled castes and some caste Hindus. With the available Indian data a sickle cell belt can be mapped out in the country. Analysis of clinical data on the first 700 cases of sickle cell disease seen in the Sickle Cell Research Centre (ICMR) at Burla shows patients of all ages, even beyond 40 years, though many patients tend to die by 20 years of age. Genetically, while most patients are SS and 8.1% are S-beta thalassaemia, cases of SD disease and SE disease were also encountered. A frequency of 0.32% of alpha thalassaemia gene was noted in SS patients against 0.28% in sickle cell trait and 0.12% in AA controls. The disease was found to manifest as early as 3 months or may remain asymptomatic till adult life. Though generally running a milder course, moderate to severe anaemia, vaso-occlusive attacks (86.5-89.36%), splenic sequestration (8.43%-12.76%), crippling avascular bone necrosis (5.7%-35.08%), osteomyelitis (5/700), and epistaxis (28.92%-35.08%) remain a few clinical events deserving competent and urgent medical management.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Sickle cell disease in India. 830 34

Several possible diagnoses are proposed to explain the symptomatology observed in a slightly jaundiced 10 month-old suckling infant suffering from fever and anaemia. Major beta-thalassaemia in its most severe form (Cooley's syndrome) proved to be the correct diagnosis. The importance of family background is stressed for these haemolytic cases.
 ...
PMID:[Cooley's syndrome in a Togolese nursing infant. Clinical and biological considerations]. 181 89

The widely accepted hypothesis that significant differences in hemoglobin levels exist between African Americans and European Americans is critically evaluated. Most studies implying hereditary interethnic differences are derived from analyses of national cross-sectional surveys or smaller nonprobability samples. Yet those studies give inadequate consideration to the important nutritional and genetic variables that must be controlled for in acceptable comparative assessments of the heritable component of anemia. Missing but vital nutritional variables include reliable parameters of intake, absorption, and utilization of nutrients, and preexisting nutrient stores. Actual measures of confounding genetic conditions such as alpha-thalassemia and hemoglobin variants are also absent, although pronounced within-group diversity has been observed in both macroethnic groups. The likelihood that significant interethnic differences exist in the structural genes coding for hemoglobin level is nil given our species' molecular genetics and evolutionary history. Common recent African origins for all modern humans, as suggested by the fossil and molecular data, as well as our close biochemical affinities with chimpanzees and gorillas, suggest that biologically significant differences among populations of contemporary humans are unlikely. When the proper control of relevant epigenetic and genetic variables is maintained, the reported discrepancies tend to disappear.
 ...
PMID:Reassessing 'hereditary' interethnic differences in anemia status. 184 18

Globin chain synthesis was studied in the reticulocytes of 30 patients with various myelodysplastic syndromes (MDS) to determine the alpha:beta globin chain synthetic ratio and its probable prognostic value. The mean (SD) value of the total alpha:beta ratio was 0.82 (0.45) ranging from 0.05 to 1.73. The same ratio in 10 normal controls was 1.01 (0.04). This difference was significant. Furthermore, the alpha:beta ratios were lower than normal in 14 patients (alpha-thalassaemia-like) (group I), almost within normal limits in 11 (group II), and higher than normal in five (beta-thalassaemia-like) (group III). In each group almost all the FAB subtypes were represented. The addition of exogenous haem in several of the test samples resulted in a slight to pronounced increase in the alpha:beta ratios, particularly in group I. In 92% of the high risk cases (refractory anaemia with excess blasts (RAEB), chronic myelomonocytic leukaemia (CMML] or 87.5% of patients who finally developed acute non-lyphoid leukaemia (ANLL) low or normal alpha:beta ratios were found. No significant correlation was noticed between alpha:beta ratios and various haematological variables or survival. It is concluded that in MDS the alpha:beta ratio varied enormously across the entire population of patients, as well as within each FAB subtype, thereby restricting its prognostic value. Although haem deficiency may be implicated in some cases of MDS, why this should be remains unclear.
 ...
PMID:Globin chain synthesis in myelodysplastic syndromes. 186 85

Identification of the beta s-gene-cluster haplotype and alpha-gene status provide a useful tool to improve the possibility for early detection in high-risk SS patients. The DNA polymorphisms of the beta s-gene-cluster modify the clinical course in sickle cell anemia especially as it involves the risk of end-stage organ failure of the kidney, lung, and brain. In both Africa and America, the CAR beta s haplotype increases the risk of developing irreversible complications at an early age. The degree of anemia, the Hb F concentration, and the preservation (or lack thereof) of G gamma Hb F is haplotype dependent and correlates with the overall clinical course of the patient. Further modulation of the clinical course by the coinheritance of alpha-thalassemia-2 tends to decrease the risk of soft tissue organ failure but increases the risk of osteonecrosis. A single individual can be expected to fit into the overall pattern. Some sickle related illness will eventually occur in all patients. In the presence of a Senegal haplotype, the patient's health is better, with the CAR haplotype it is always worse; severity is intermediate in the Benin. These genetic markers can be used to identify the endangered patient before the onset of irreversible major organ failure. The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. Such a patient needs preventive therapy before suffering a major hemisphere stroke, losing kidney function, or developing cor pulmonale secondary to restrictive lung disease.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Sickle cell anemia: beta s-gene-cluster haplotypes as prognostic indicators of vital organ failure. 188 45

We analyzed the mutations present in 19 patients with beta-thalassemia major, in 11 patients with Hb S-beta-thalassemia, and the beta S haplotypes of 34 patients with sickle cell anemia. The study included 84 relatives. Dot-blot analysis of amplified DNA with various specific oligonucleotide probes identified 11 different known beta-thalassemia mutations and frameshifts; a new frameshift at codons 25/26 (+T) was detected through sequencing of amplified DNA. The common beta-thalassemia mutations at codon 39 (C----T) and at IVS-I-110 (G----A) were also most prevalent among the Tunisian patients, while the milder T----C mutation at IVS-I-6 was not found. All mutations cause a beta 0-thalassemia or a severe beta + -thalassemia [T----A at -30; IVS-I-5 (G----A); IVS-I-110 (G----A)] which explains the need for regular blood transfusions in the thalassemia major and S-beta-thalassemia patients. Nearly all sickle cell anemia patients carried the beta S mutation on a chromosome with haplotype 19 (or Benin) and all had severe anemia with sickling complications. Identification of the beta S haplotype was through dot-blot analysis with oligonucleotide probes that detect mutations in the G gamma and A gamma promoter sequences, specific for this haplotype.
 ...
PMID:Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. 191 31

Hb Geelong [beta 139(H17)Asn----Asp] was detected in a German woman of Polish-Russian descent. It is an unstable variant which appears to increase the severity of a beta (+)-thalassemic phenotype in the propositus. The electrophoretic properties of Hb A and Hb Geelong are similar on cellulose acetate in both acidic and alkaline conditioning. The electrophoretic mobility and the amino acid analysis of beta XT-14 indicated the substitution Asn----Asp at beta 139. The sequence of beta XT-14 was confirmed by dansyl-Edman degradation. The slight increase observed in the P50 of whole blood is not intrinsic to the beta 139 substitution, but is thought to result from an increased 2,3-diphosphoglycerate level in response to anemia. No family studies were possible to investigate the mode of inheritance of either beta (+)-thalassemia or Hb Geelong in the propositus. Synthetic globin chain ratios suggest that impaired synthesis of the variant globin chain is partially responsible for the low level of Hb Geelong in peripheral blood.
 ...
PMID:Hb Geelong [beta 139(H17)Asn----Asp]. 191 39

The perinatal outcome of 96 patients who had an antenatal haemoglobin value of less than 8.0 g/dl was compared with that of a similar number of controls who were matched for age and parity. Sixty-one patients (63%) had iron deficiency anaemia, 25 (26%) had alpha or beta thalassaemia minor, 7 (7.3%) had iron deficiency and thalassaemia trait, 2 had idiopathic pancytopenia and 1 had haemolytic anaemia due to systemic lupus erythematosus. Patients in the study group attended the antenatal booking clinic later, had less weight gain during pregnancy and their babies had lower birth-weights (2,984 g versus 3,177 g p less than 0.01) although there was no significant difference in the period of gestation at delivery. Six patients in the study group had placental abruption and another 2 patients had stillbirths but neither of these complications occurred in the control group. Although 37 patients (39%) in the study group received an antenatal blood transfusion, 53 (55%) of this group also had postnatal anaemia.
 ...
PMID:A case controlled study of pregnancy complicated by severe maternal anaemia. 193 33


<< Previous 1 2 3 4 5 6 7 8 9 10