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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The eyes were examined in 118 inpatients with various thalassemia forms. The examinations included viso- and perimetry, biomicro- and ophthalmoscopy, fluorescent angiography of the fundus oculi and retinophotography. Patients with thalassemia were found to develop a variety of changes in the eye, whose manifestations depended on the length and severity of the underlying disease and on the treatment administered. Changes in the conjunctival and retinal vessels develop as early as in the initial stages of thalassemia, presenting as twisting, dilatation, and irregular calibre of the veins, dilatation of the arteries and reduction of their light reflex. Later dystrophic and atrophic changes develop: obliteration of the iris pattern and thinning of its peripheral zone, deterioration of blood circulation in the central retinal zone. Multiple blood transfusions and hemosiderosis lead to the development of hyperpigmentation of the limb, sclera, fundus oculi and appearance of retinal angioid strips. These findings should be taken into consideration when assessing the ocular status of thalassemia patients and defining the indications for treatment for angiopathic and dystrophic processes in the eye.
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PMID:[Ocular function in beta-thalassemia patients]. 129 94

The left ventricular dimension and posterior wall dynamics were studied by computer assisted analysis of M mode echocardiography in 25 normal children (group 1) and 32 transfusion dependent children with beta thalassaemia major who had no evidence of heart failure (group 2). Twenty seven of those in group 2 remained well but five died of cardiac decompensation within 12 months. Compared with group 1, the left ventricular fractional shortening and ejection fraction were normal in those in group 2 who survived but diminished in those who died. Evaluation of left ventricular dimension and posterior wall dynamics during systole (peak shortening rate, peak velocity of circumferential fibre shortening, and peak posterior wall thickening rate) showed similar findings in that only the group who died had abnormal values. The left ventricular dimension and posterior wall diastolic dynamics (peak relaxation rate, normalised peak relaxation, peak wall thinning, and normalised peak wall thinning rate), however, showed progressively slower rates in all the children in group 2. The findings suggest that left ventricular diastolic dysfunction occurs early in myocardial impairment in patients with beta thalassaemia major. When there are abnormalities in both diastole and systole, the myocardial impairment is advanced and the prognosis is poor.
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PMID:Left ventricular function in beta thalassaemia major. 262 27

The main skeletal abnormalities in beta-thalassemia are widening of medullary spaces, rarefaction of bone trabeculae, thinning of cortical bone, and perpendicular periosteal spiculation. Premature epiphyseal fusion (PEF) and extramedullary hematopoiesis (EH) are found, though more rarely. The incidence of PEF and EH in 64 patients affected by beta-thalassemia is reported. The different incidence of such complications in thalassemia major and intermedia is reported, and a possible correlation with transfusion regimen is also considered.
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PMID:Premature epiphyseal fusion and extramedullary hematopoiesis in thalassemia. 342 21

Xeroradiographic investigations of the skull, hand, and elbow were performed on 27 patients with homozygous beta-thalassaemia. The results were compared with plain radiographic examinations. Xeroradiography, because of its technical properties (i.e. edge contrast enhancement and wide latitude), was shown to demonstrate cortical thinning of long bones, swelling of the diploic space in the skull, and reticulated patterns in the elbow better than standard radiography. Moreover, the use of "positive" mode imaging was shown to have advantages in the study of the skull and extremities.
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PMID:Xeroradiography in beta-thalassaemia. 396 76

The purpose of this study was to evaluate young asymptomatic patients with thalassemia major by utilizing an echocardiographic technique which traces an expanded image of the left ventricular posterior wall (LVPW). This technique separates global cardiac function from segmental changes in LV free wall thickness during systole and diastole. The study population consisted of 13 patients aged 2 to 15 years with classical homozygous beta-thalassemia. Thirty-one normal healthy individuals age 4 to 13 years served as controls. Echocardiograms, height, weight, and blood pressure were measured in all patients at their lowest hemoglobin level. Traces of the expanded LVPW were analyzed and measured; while total net thickening relative to baseline was similar in both groups at all times during systole and diastole, the LVPW in children with thalassemia was statistically thinner than in controls (p less than 0.001). Contraction was a nearly linear process in controls, but for patients with thalassemia, it was significantly faster at 50% and 75% of systolic time (p less than 0.05). Relaxation, on the other hand, was not linear for either controls or thalassemic patients. In both groups, diastolic thinning was biphasic; however, LV walls of thalassemic children thinned more slowly than normal for each time point in diastole (p less than 0.001). These results demonstrate that young children with thalassemia major, even if kept at strict transfusion and chelation regimens, have defects in LV segmental wall motion which antedate the appearance of clinical symptoms.
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PMID:Preclinical abnormal segmental cardiac manifestations of thalassemia major in children on transfusion-chelation therapy: echographic alterations of left ventricular posterior wall contraction and relaxation patterns. 706 92

A 33-year-old white female of English descent with beta thalassaemia trait developed painful recurring bilateral knee effusion at age 15 years. Trauma was denied. Synovial analyses revealed noninflammatory effusions with normal complement, no inclusions, and no crystals. Knee x-rays normal at ages 18 and 26, showed mild osteoarthritic changes at age 33. Laboratory tests for other known causes of arthritis were repeatedly normal or negative. Bone densitometry was below normal. Light microscopy of the synovial membrane showed no significant abnormalities and no iron deposition. Electron microscopic findings included multilamination of vascular basement membranes and large amounts of thin fibrils surrounding many connective tissue cells. Treatment with salicylates did not prevent recurrence of effusions, and quadriceps strengthening and joint rest were moderately successful in relieving pain. Intra-articular corticosteroids on 2 occasions were not helpful. Whether her knee arthritis is purely secondary to the para-articular bone thinning from the chronic marrow expansion remains to be determined.
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PMID:Arthritis in beta thalassaemia trait: clinical and pathological features. 722 91

Up to the mid-1960s, beta-thalassemia was treated with blood transfusions as frequent as needed to keep symptoms under control and to prevent transfusional hemosiderosis. In the following years, high transfusion regimens and iron chelation therapy with desferrioxamine were used. Because of these different treatment modalities, skeletal findings in thalassemia have markedly changed. In the past, thalassemic patients treated with a low transfusion regimen and without chelation therapy developed osteopenia--with widened medullary spaces, cortical thinning and trabecular atrophy--secondary to chronic expansion of red marrow, due to increased erythropoietin response to chronic anemic hypoxia. Typical radiographic patterns in the skull included widened diploic space, atrophic-especially outer--tables and, in some patients, the "hair-on-end" pattern. As for the face, obliteration of the paranasal sinuses and the typical "rodent facies" were observed. In the ribs, bulbous expansion of the posterior and anterior segments and the "rib within a rib" patterns were observed. As for the spine, coarse trabecular arrangement was seen. The "cobweb" pattern was seen in the pelvis and finally the lack of the normal concave outline was observed in the long bones. In the patients treated with high transfusion regimens and iron chelation therapy over the last 30 years, both skull anomalies and disfigurement are less frequent. The skull is almost normal, with the exception of osteopenia and thickened diploic space in the frontal bone only; the paranasal sinuses are usually not obliterated. The hands and rib are normal, just like long bones, pelvis, scapulae and vertebral bodies. Nevertheless, in some adequately treated patients new skeletal features have been recently observed in the long bones, which are similar to those occurring in rickets and/or scurvy, and in the vertebral bodies, resembling platyspondylia. These abnormal features might be caused by several factors--i.e., marrow expansion, transfusion regimens, direct/indirect effects of desferrioxamine, iron load, endocrine abnormalities, deficiency of some minerals and finally dysvitaminoses. Nevertheless, osteopenia remains the main negative factor of thalassemia.
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PMID:[The evolutionary effects of therapy on the skeletal lesions in beta-thalassemia]. 819 Sep 18

A patient suffering from thalassaemia, with extreme osteoporosis, coarse trabeculation and cortical thinning of the bones, developed a pathological fracture of the left hip. This was treated by a single dose of radiotherapy. It is suggested that the radiotherapy facilitated the healing process by eliminating the causative factor of the fracture, which was the expanding and over-proliferating bone marrow.
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PMID:Pathological fracture in haemoglobinopathy: treatment by irradiation. 842 18

Growth retardation in children with thalassaemia major is multifactorial. We studied the growth hormone (GH) response to provocation by clonidine and glucagon, measured the circulating concentrations of insulin, insulin-like growth factor-I (IGF-I), IGF-binding protein-3 (IGFBP3), and ferritin, and evaluated the spontaneous nocturnal (12 h) GH secretion in prepubertal patients with thalassaemia and age-matched children with constitutional short stature (CSS) (height SDS < -2, but normal GH response to provocation). The anatomy of the hypothalamic pituitary area was studied in patients with abnormal GH secretion using MRI scanning. Children with thalassaemia had significantly lower peak GH response to provocation by clonidine and glucagon (8.8 +/- 2.3 micrograms/l and 8.2 +/- 3.1 micrograms/l respectively) than did controls (17.6 +/- 2.7 micrograms/l and 15.7 +/- 3.7 micrograms/l respectively). They had significantly decreased circulating concentrations of IGF-I and IGFBP3 (68.5 +/- 19 ng/ml and 1.22 +/- 0.27 mg/l respectively) compared to controls (153 +/- 42 ng/ml and 2.16 +/- 0.37 mg/l respectively). Seven of the thalassaemic children had a GH peak response of < 7 micrograms/l after provocation. Those with a normal GH response after provocation also had significantly lower IGF-I and IGFBP3 concentrations than controls. Analysis of their spontaneous nocturnal GH secretion revealed lower mean (2.9 +/- 1.77 micrograms/l) and integrated (2.53 +/- 1.6 micrograms/l) concentrations compared to controls (4.9 +/- 0.29 micrograms/l and 5.6 +/- 0.52 micrograms/l respectively). Five of them had mean nocturnal GH concentration < 2 micrograms/l and four had maximum nocturnal peak below 10 micrograms/l. These data denoted defective spontaneous GH secretion in some of these patients. MRI studies revealed complete empty sella (n = 2), marked diminution of the pituitary size (n = 4), thinning of the pituitary stalk (n = 3) with its posterior displacement (n = 2), and evidence of iron deposition in the pituitary gland and midbrain (n = 7) in those patients with defective GH secretion (n = 9). Serum ferritin concentration was correlated significantly with the circulating IGF-I (r = -0.47, p < 0.01) and IGFBP3 (r = -0.43, p < 0.01) concentrations. These data prove a high prevalence of defective GH secretion in thalassaemic children associated with structural abnormality of their pituitary gland.
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PMID:Spontaneous and provoked growth hormone (GH) secretion and insulin-like growth factor I (IGF-I) concentration in patients with beta thalassaemia and delayed growth. 1066 1

To elucidate whether the cause of sexual maturation arrest in thalassaemia is of gonadal or pituitary etiology, 10 males with thalassaemia and delayed puberty and 10 with constitutional delay of growth and pubertal maturation (CSS) were extensively studied. Their spontaneous nocturnal gonadotropin secretion and gonadotropin response to intravenous 100 micrograms gonadotropin-releasing hormone (GnRH) were evaluated. Circulating testosterone concentration and clinical response were evaluated after 3 days, 4 weeks and 6 months of intramuscular administration of human chorionic gonadotropin (HCG) (2500 U/m2/dose). Thalassaemic boys had significantly lower circulating concentrations of testosterone compared to those with constitutional delay of growth and sexual maturation (CSS) at the same pubertal stage. Short- and long-term testosterone response to administrations of HCG was markedly decreased in thalassaemic boys. After 6 months of HCG administration 50 per cent (5/10) of the boys did not show significant testicular enlargement or genital changes. Despite the low circulating concentrations of testosterone, none of the patients had high basal or exaggerated gonadotropin response to gonadotropin releasing hormone (GnRH) stimulation. Luteinizing hormone (LH) peak responses to GnRH were significantly lower as compared to controls. Follicle-stimulating hormone (FSH) peak responses to GnRH did not differ among the two study groups. The mean nocturnal LH and FSH secretion was significantly decreased in all thalassaemic boys as compared to boys with CSS at the same pubertal stage (testicular volume). These data proved that hypogonadotropic hypogonadism is the main cause of delayed/failed puberty in adolescents with thalassaemia major. MRI studies revealed complete empty sella (n = 5), marked diminution of the pituitary size (n = 5), thinning of the pituitary stalk (n = 3) with its posterior displacement (n = 2), and evidence of iron deposition in the pituitary gland and midbrain (n = 8) in thalassaemic patients, denoting a high incidence of structural abnormalities (atrophy) of the pituitary gland. Moreover, in many of the thalassaemic boys, the defective testosterone response to long-term (6 months) HCG therapy denoted significant testicular atrophy and/or failure secondary to siderosis. It appears that testosterone replacement might be superior to HCG therapy in these patients. This therapy should be introduced at the proper time in these hypogonadal patients to induce their sexual development and to support their linear growth spurt and bone mineral accretion.
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PMID:Spontaneous and GnRH-provoked gonadotropin secretion and testosterone response to human chorionic gonadotropin in adolescent boys with thalassaemia major and delayed puberty. 1082 33


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