Results 251 to 260 of about 36,976 (279)

Hypertriglyceridemia in homozygous beta thalassemia

The Journal of Pediatrics, 1975
A case of hypertriglyceridemia in association with homozygous beta-thalassemia in an 11-month-old female infant is reported. The hypertriglyceridemia proved to be secondary, as it was indicated by clinical features as well as laboratory findings. Attention is called to a possible alteration of lipid metabolism in association with thalassemia major.
Rex B. Conn, Ameri Mr, M. Ziai, Alebouyeh M   +3 more
openaire   +3 more sources

Ophthalmic Evaluation in Beta-Thalassemia

The Indian Journal of Pediatrics, 2017
To determine the association of ocular manifestations in beta-thalassemia with the patient's age, blood transfusion requirements, average serum ferritin and dose and duration of iron chelation therapy.Sixty multi-transfused beta thalassemia patients of 12 to 18 y of age on chelation therapy were included in this cross-sectional analysis. Structural and
Neepa Thacker, Rashid H. Merchant, Hrishikesh Punde, Deepak Bhatt   +3 more
openaire   +3 more sources

C3 Polymorphism in Beta-Thalassemia

Acta Haematologica, 1984
The distribution of phenotypes and gene frequencies of the third component of complement (C3) were studied in 106 beta-thalassemic patients and in 112 carriers of the beta-thalassemia trait. A statistically significant association was found between the C3F gene and homozygous beta-thalassemia.
C. Politi, A. Fertakis, A. Karamerou, Anastasios E. Germenis, M. Kalantzi   +4 more
openaire   +3 more sources

Pycnodysostosis with heterozygous beta-thalassemia

Pediatric Radiology, 1977
A 6-year follow-up of a Greek girl with pycnodysostosis associated with heterozygous beta-thalassemia is reported. Active rickets in infancy was superimposed on pycnodysostosis. In the family the autosomal recessive disease, pycnodysostosis, appeared in two of three siblings in combination with the autosomal dominant disease, thalassemia minor.
Gabriele Benz, Edla Schmid-Rüter
openaire   +3 more sources

Platyspondyly in treated beta-thalassemia

European Journal of Radiology, 1994
Flattening of the vertebral bodies with a platyspondyly appearance is described in 14 patients selected for evaluation of short stature from 106 patients affected by thalassemia major, who received an intensive transfusion regimen combined with continuous chelation therapy.
Scutellari Pn, Carlo Orzincolo, Castaldi G   +2 more
openaire   +3 more sources

Accelerated atherosclerosis in beta-thalassemia

American Journal of Physiology-Heart and Circulatory Physiology, 2023
This work definitively shows for the first time that beta-thalassemia leads to accelerated atherosclerosis. We demonstrated that intravascular hemolysis is a prominent feature in beta-thalassemia and the resulting increases in free heme are mechanistically relevant.
Julian Hurtado, Hassan Sellak, Giji Joseph, Caitlin V. Lewis, Crystal R. Naudin, Sergio Garcia, James Robert Wodicka, David R. Archer, W. Robert Taylor   +8 more
openaire   +2 more sources

Neurological complications of beta-thalassemia

Annals of Hematology, 2015
The thalassemias are the most common single gene disorder in the world. Over the last years, several reports have demonstrated neurological complications in beta-thalassemia patients. In most cases, these complications remained subclinical and were detected only during neuropsychological, neurophysiological, or neuroimaging evaluation.
P. Nemtsas, M. Arnaoutoglou, V. Perifanis, E. Koutsouraki, A. Orologas   +4 more
openaire   +3 more sources

β-Thalassemia in Turkey

Hemoglobin, 1990
A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations.
R. Öner, Yurdanur Kilinç, Muzaffer Aksoy, Cigdem Altay, Ferdane Kutlar, T. A. Stoming, A. L. Reese, Titus H.J. Huisman, Abdullah Kutlar, Aytemiz Gurgey   +9 more
openaire   +3 more sources

β-Thalassemia Mutations in Corsica

Hemoglobin, 2000
Screening of beta thalassemia mutations in Corsica.
Varesi L, Vina G, Memmi M, Marongiu MF, Ristaldi MS   +4 more
openaire   +5 more sources

Clinical Classification, Screening, and Diagnosis in Beta-Thalassemia and Hemoglobin E/Beta-Thalassemia

Hematology/Oncology Clinics of North America, 2023
This article reviews the classification of beta-thalassemia syndromes, correlating clinical severity and genotype in the earlier classification, and broadening it recently based on clinical severity and transfusion status. The classification is dynamic, and individuals may progress from transfusion-independent to transfusion-dependent.
Morgan, Pines, Sujit, Sheth
openaire   +2 more sources