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Beta-thalassemia [PDF]

Genetics in Medicine, 2010
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10 ...
Renzo Galanello, Antonio Cao
exaly   +10 more sources

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Beta Thalassemia

Hematology/Oncology Clinics of North America, 2019
Janet L Kwiatkowski, Eugene Khandros
exaly   +2 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

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

Gene addition for beta thalassemia

Annals of the New York Academy of Sciences, 2023
Abstract Individuals 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.
openaire   +2 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.
G, Benz, E, Schmid-Rüter
openaire   +2 more sources

C3 Polymorphism in Beta-Thalassemia

Acta Haematologica, 2009
The distribution of phenotypes and gene frequencies of the third component of complement (C3) were studied in 106 β-thalassemic patients and in 112 carriers of the β-thalassemia trait. A statistically significant association was found between the C3F gene and homozygous β-thalassemia.
A, Germenis, M, Kalantzi, A, Karamerou, C, Politi, A, Fertakis   +4 more
openaire   +2 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
Rashid H, Merchant, Hrishikesh, Punde, Neepa, Thacker, Deepak, Bhatt   +3 more
openaire   +2 more sources

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.
M R, Ameri, M, Alebouyeh, M, Ziai, R B, Conn   +3 more
openaire   +2 more sources