Results 141 to 150 of about 39,247 (186)

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

Beta-Thalassemia Syndromes and Pregnancy

Obstetrical & Gynecological Survey, 1994
The 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 ...
C, Savona-Ventura, F, Bonello
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   +2 more sources

The Silent Carrier of Beta Thalassemia

New England Journal of Medicine, 1969
Abstract 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.
openaire   +2 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.
C, Orzincolo, G, Castaldi, P N, Scutellari   +2 more
openaire   +2 more sources

[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia].

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2006
The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease.600 patients (270 male and 330 female) aged 2-85 years with microcytosis and no evidence of iron deficiency were examined for beta-thalassemia. Hemoglobin A2 and hemoglobin F and bilirubin were evaluated.
Ewa, Zdebska, Angelika, Krawcewicz, Anna, Adamowicz-Salach, Teresa, Jackowska, Barbara, Tejza, Wojciech, Strojny, Maria, Kuliszkiewicz-Janus, Urszula, Mokras, Jerzy, Kościelak   +8 more
openaire   +2 more sources

[Beta-thalassemia in Germany. Results of cooperative beta-thalassemia study].

Klinische Padiatrie, 2000
At present, about 300 patients with thalassemia major are living in Germany. Starting in 1991, a multicenter study in Germany has concentrated on identifying all patients suffering from thalassemia as well as on establishing a uniform therapy protocol including follow-up diagnostic procedures.
H, Cario, K, Stahnke, E, Kohne
openaire   +1 more source