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)

A cohort of 53 patients (age range 1.9-16.5 years) with sickle cell disease (49 homozygous SS and four S beta zero-thalassaemia) was studied for evidence of sleep related upper airway obstruction (UAO). This involved (i) a clinical assessment based on a history of snoring, a score of tonsillar size, and (for 50 patients) overnight multichannel respiratory recordings, and (ii) a blinded analysis of arterial oxygen saturation (SaO2) from the above recordings, and comparison with results from 50 healthy age matched controls of both white (n = 25) and Afro-Caribbean race. There was no difference in the baseline SaO2 values of the white and Afro-Caribbean controls. Eighteen patients with sickle cell disease (36%) were found to have sleep related UAO. The blinded analysis showed that eight patients (16%) had episodic hypoxaemia (SaO2 less than or equal to 80%, a value not observed in controls) and/or low baseline SaO2 values (less than 95.8%, the lowest value seen in the controls). Postoperative assessment was undertaken in 15 patients who underwent adenotonsillectomy. All demonstrated an improvement in symptoms and a reduction or abolition of episodic hypoxaemia. Of the 47 patients assessed when free of UAO (not demonstrated on screening, n = 32, or resolved following surgery, n = 15), seven continued to show baseline hypoxaemia. Sleep related UAO and baseline hypoxaemia are common complications of sickle cell disease in children.
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PMID:Sleep related upper airway obstruction and hypoxaemia in sickle cell disease. 832 48

Discovery of an enlarged spleen in a child requires steps to identify the etiology. One hundred and seventy-eight patients seen over a four-year period (1985-1988) at the Cocody Teaching Hospital were reviewed. The incidence of splenic enlargement among pediatric inpatients was 1.6%. Males (n = 106) were more often affected than females (n = 72). Slightly over half the children (54.49%) were 0 to 5 years of age. The main clinical presenting features were fever (90%), anemia (72%), a decline in general health (36.50%), enlargement of the liver (33.50%), jaundice (26.50%), and enlarged lymph nodes (7%). Type II of Hackett's classification accounted for most cases (61.80%), followed by Type III (14%). Main etiologies included malaria (53%), salmonella infections (15%), sickle cell anemia (14%), schistosomiasis (9%), AIDS (3%), and thalassemia (2%). Malignancies (leukemia, lymphoma) were relatively infrequent. More than one etiology was found in 13 cases. The distribution of etiologies by age group was determined and a strategy for investigating children with splenic enlargement in tropical countries was developed.
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PMID:[Etiology of splenomegaly in children in the tropics. 178 cases reviewed at the university hospital center of Abidjan-Cocody (Ivory Coast)]. 131 90

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
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PMID:[Blackfan-Diamond disease and malignancy: cause effect relationships?]. 133 66

The splenic function measured by the counts of "pitted" erythrocytes has been assessed in 87 patients with sickle cell disease (59 homozygotes for hemoglobin S (SS), 14 double heterozygotes for Hb S and beta zero thalassemia (S/beta zero thal), 4 S/beta+ thal and 10 SC patients) in Southeast Brazil. Results showed a progressive increase in pit counts according to age. The reduction pattern in the splenic function was similar for the SS, S/beta zero thal and S/beta+ thal patients, and over the age of 12 almost all patients presented counts compatible with severe splenic hypofunction. Patients with SC hemoglobinopathy presented slower development of hyposplenism and lower levels of pit counts even in advanced ages. Except for S/beta+ thal patients, the developmental pattern of hyposplenism was not different from that reported among patients in the United States and Jamaica.
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PMID:Pattern of splenic phagocytic function in Brazilian patients with sickle cell disease. 134 Oct 23

The present epidemiological study of the molecular characteristics of beta-thalassemia in Sicily was prompted by the disparate phenotypic expression (in clinical status and absolute HbF level) observed in two beta-thalassemic homozygotes who were also homozygous for the beta-like globin gene cluster haplotype III. We suspected that polymorphisms within haplotype III could be the cause for the discrepancy. Based on the association of particular conformations of the (AT)xT(y) motif (-540 5' to the beta gene) with milder forms of thalassemia and sickle cell anemia, 38 homozygous beta-thalassemia patients were studied to define their haplotypes, the -158 site 5' to the G gamma gene (linked to haplotype III) and the structure of the (AT)xT(y) motif. We found that the patient who was phenotypically mild and homozygous for beta-thalassemia, haplotype III, and the -158 C----T mutation was homozygous for the rare (AT)9T5 motif. In contrast, the patient homozygous for beta-thalassemia, haplotype III, and the -158 mutation, but exhibiting a severe clinical course, was homozygous for the (AT)7T7 configuration. Others have suggested that (AT)9T5 is a negative regulatory protein binding sequence, and it is a silent carrier state for beta-thalassemia. The usual configuration (AT)7T7, has considerably less affinity for regulatory protein binding, and it is the most common configuration in Sicilian beta-thalassemics (67 of the 78 chromosomes studied). Within the 38 patients studied, seven were informative because they had various combinations of the (AT)9T5 and (AT)7T7 motif, and the -158 C----T mutation. The results in these patients suggest that only the co-presence of the (AT)9T5 configuration and a C----T change at -158 5' to the G gamma gene is associated with high HbF expression and a mild clinical phenotype. We postulate that these two regions of the beta-like globin gene cluster interact, when endowed with the proper sequences, to enhance the expression of HbF secondary to anemia.
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PMID:Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia? 137 63

Allogenic bone marrow transplantation (ABMT) is the only curative approach for sickle cell anemia and major beta-thalassemia. In sickle cell anemia, ABMT can be proposed for severe clinical disease. In major beta-thalassemia, it must be proposed to young patients who have an HLA identical familial donor.
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PMID:[Indications for bone marrow graft in severe hemoglobinopathies]. 137 42

In normal humans the fetal stage-specific gamma-globin genes are silenced after birth and not expressed in the adult. Exceptions are seen in cases of hereditary persistence of fetal haemoglobin (HPFH). These are clinically important because the elevated levels of gamma-globin can alleviate beta-thalassaemia and sickle cell anaemia. One class of mutations is associated with point mutations in the promoter of the gamma-globin genes (non-deletion HPFH), whereas others seem to be caused by large deletions 3' to the gamma-globin genes. To test whether the point mutation found in the Greek non-deletion HPFH (guanine to adenine at nucleotide position -117) is the cause of the raised gamma-globin levels in the adult stage and is not just a linked polymorphism, we engineered this mutation into a gamma-globin gene. When this gene was introduced into mice, the presence of the -117 mutation results in persistence of gamma-globin expression at a high level and a concomitant decrease in beta-globin expression in fetal and adult mice. We show that these changes correlate with the loss of binding of the transcription factor GATA1 to the gamma-globin promoter, suggesting that it may act as a negative regulator of the gamma-globin gene in adults.
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PMID:A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. 137 47

Clinical and haematological features of 50 patients with sickle cell/beta-thalassemia (SB0 or SB+) are investigated. Total haemoglobin value was not significantly different (P greater than 0.05) in both types. Haemoglobin F and S were significantly higher (P less than 0.05) in SB0 than SB+ while haemoglobin A2 level was lower in SB0 than SB+. One SB0 case with exceptionally high HbF (32 per cent) with severe clinical course was found. In this case, the high HbF did not ameliorate the clinical severity. Heterogeneity in each type of sickle cell/beta-thalassemia is discussed. The differentiation of SB0 and sickle cell disease is best made on the basis of family study.
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PMID:Sickle cell/beta-thalassemia in North Jordan. 138 39

Renal function studies were performed in 41 patients with sickle cell-beta thalassaemia (S/b thal) and compared to 14 normal controls and 8 sickle cell (SS) patients. Polyuria, hyposthenuria and mild proteinuria were common in both S/b thal and SS patients. A renal concentrating defect was manifest in all patients studied, and in 4 of the 7 S/b that patients tested, an abnormal acidification test was found. A statistically significant negative correlation (n = 19, r = -0.48, p less than 0.05) was noted between creatinine clearance (CCr) and age for the patients over 30 years. There was no correlation between hemoglobin and CCr; on the contrary, a statistically significant negative correlation was found between CCr and hemoglobin F (n = 29, r = -0.428, p less than 0.05) Our S/b thal and SS patients showed a decreased daily excretion of sodium, calcium, phosphate and magnesium and lower serum magnesium levels than the controls. One third of the S/b thal patients showed hyperuricosuria, and a statistically significant negative correlation was noted between serum uric acid and its fractional excretion in all S/b thal patients (n = 41, r = -0.450, p less than 0.01). Serum phosphate levels were independent of age. A statistically significant positive correlation was found between the tubular reabsorptive capacity for phosphate and the number of painful crises per year (n = 33, r = 0.836, p less than 0.001). We conclude that renal involvement in the double heterozygous state is as severe as in homozygous sickle cell disease.
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PMID:Renal involvement in sickle cell-beta thalassemia. 138 36

A method is described in which allele-specific oligonucleotides (ASO) are labeled non-enzymatically with digoxigenin (DIG). The ASOs were synthesized in a DNA synthesizer. A primary C6-alkylamine was incorporated at the 5'end of the ASO. The derivative was coupled to digoxigenin-3-0-methylcarbonyl-epsilon-aminocaproic acid-N-hydroxy-succinimide ester. The DIG-ASO probes were isolated from the crude preparation and hybridized with amplified genomic DNA. The annealed probes were detected with an ELISA test. The DIG-ASO probes were successfully used for the identification of sickle cell disease genotypes and the most common beta-thalassemia mutations.
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PMID:[Non-enzymatic marking of gene probes using digoxigenin for the diagnosis of sickle cell mutation and beta thalassemia]. 141 16


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