Results 261 to 270 of about 36,976 (279)
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Hemoglobin, 1990
Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different beta-thalassemia mutations. The codon 39 (C----T) and IVS-I-110 (G----A) mutations occurred most frequently but seven additional mutations were observed which were present ...
G. H. Petkov +12 more
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Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different beta-thalassemia mutations. The codon 39 (C----T) and IVS-I-110 (G----A) mutations occurred most frequently but seven additional mutations were observed which were present ...
G. H. Petkov +12 more
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The Silent Carrier of Beta Thalassemia
New England Journal of Medicine, 1969Abstract A family of Albanian descent had an unusual form of beta thalassemia. The father of two children with mild thalassemia major had normal red-cell morphology and normal levels of hemoglobins A2 and F, whereas the mother had elevated hemoglobin A2.
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Beta-Thalassemia Syndromes and Pregnancy
Obstetrical & Gynecological Survey, 1994The literature relating to homozygous beta-thalassemia and the problems these patients have during their pregnancy is reviewed and another case report of a twin pregnancy in a homozygous beta-thalassemia individual is included. The majority of cases described refer to the intermedia clinical form of the hematological problem because patients with ...
Charles Savona-Ventura, F. Bonello
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Gene addition for beta thalassemia
Annals of the New York Academy of Sciences, 2023AbstractIndividuals with transfusion‐dependent beta thalassemia require a high burden of care and experience significant morbidity from the underlying disease and its treatment, which negatively impact the quality of life. Allogeneic hematopoietic stem cell transplantation offers the chance for a cure, but donor availability and transplant‐related ...
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Hematology/Oncology Clinics of North America, 2019
Beta thalassemias are a significant global health problem. Globin chain imbalance leads to a complex physiologic cascade of hemolytic anemia, ineffective erythropoiesis, and iron overload. Management of the broad spectrum of phenotypes requires the careful use of red blood transfusions, supportive care, monitoring, and management of iron overload.
Janet L. Kwiatkowski +2 more
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Beta thalassemias are a significant global health problem. Globin chain imbalance leads to a complex physiologic cascade of hemolytic anemia, ineffective erythropoiesis, and iron overload. Management of the broad spectrum of phenotypes requires the careful use of red blood transfusions, supportive care, monitoring, and management of iron overload.
Janet L. Kwiatkowski +2 more
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Cardiac Involvement in β‐Thalassemia Major and β‐Thalassemia Intermedia
Hemoglobin, 2004The forms and severity of cardiac complications were investigated in patients with asymptomatic thalassemia intermedia and thalassemia major by M-mode, bi-dimensional echocardiography (ECHO) and echo-Doppler. Twenty-eight patients of both sexes with beta-thalassemia intermedia (beta-TI), mean age 23.2 +/- 6.3 years, untransfused or minimally transfused,
Luigi Esposito +7 more
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Current Opinion in Hematology, 1997
The striking improvement in the life expectancy of patients with homozygous beta-thalassemia observed over the past three decades is mainly due to the institution of adequate transfusion regimens and effective iron chelation therapy with nightly subcutaneous desferrioxamine.
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The striking improvement in the life expectancy of patients with homozygous beta-thalassemia observed over the past three decades is mainly due to the institution of adequate transfusion regimens and effective iron chelation therapy with nightly subcutaneous desferrioxamine.
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Cognitive deficits in beta-thalassemia major
Acta Neurologica Scandinavica, 2000To assess cognitive functioning in patients affected by beta-thalassemia major (beta-th) by using a neuropsychological battery, and to identify clinical correlates.Forty-six beta-th patients and 46 controls similar for age, sex, and education participated in the study. All subjects performed a comprehensive neuropsychological battery including tests of
Roberto Monastero +4 more
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Schizophrenia and beta-thalassemia: A genetic link?
Psychiatry Research, 2008This report of two cases in which schizophrenia and beta-thalassemia occurred simultaneously in several family members may suggest that a genetic link exists between these two disorders. A known genetic disease (beta-thalassemia) could help confirm the presence, on the short arm of chromosome 11, of a genetic susceptibility factor for schizophrenia.
Borras, Laurence, Huguelet, Philippe
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Scientific Journal of Medical Research, 2017