Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Obstructive sleep apnea can be caused by hypertrophy of tonsils and adenoids or neuromuscular diseases. The authors describe a child with thalassemia intermedia in whom severe obstructive sleep apnea syndrome developed. Computed tomography scanning revealed an obstruction of the nasopharynx resulting from extramedullary hematopoiesis. The child was treated with hydroxyurea and blood transfusions. Relief of symptoms was noted 1.5 months after initial treatment. Extramedullary hematopoiesis causes sleep apnea syndrome in thalassemic patients, and the treatment of hydroxyurea and blood transfusion for extramedullary hematopoiesis should be further studied.
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PMID:Upper airway obstruction-related sleep apnea in a child with thalassemia intermedia. 1187 81

Elevated pulmonary artery pressures (PAP) occur in approximately 30% of children with sickle cell disease. In adults, pulmonary hypertension is significantly associated with mortality. There are no data on the long term significance in children. Nineteen children with SS/Sbeta(0) thalassaemia had elevated PAP, defined as tricuspid regurgitant jet velocity (TRV) > or =2.5 m/s on screening echocardiograms. They were prospectively followed for 23 months (range 19-31 months). Patients with initial TRV > or = 3 or TRV > or = 2.5 m/s on repeat echocardiogram had cardiopulmonary evaluation and were offered treatment with hydroxyurea. Associated conditions like asthma and obstructive sleep apnea were treated. 18/19 patients had follow-up echocardiograms. These showed normalization of TRV in 8 patients. Risk factors associated with persistent elevation were higher TRV on initial echocardiogram (P = 0.01), lower haemoglobin (P = 0.003) and lower oxygen saturation (P = 0.03). Five patients with persistently elevated PAP were treated with hydroxyurea. Mean right ventricular pressure dropped from 40.16 to 29.26 (P = 0.017) after 3-6 months and to 23.6 mmHg (P = 0.002) after 9-12 months on treatment. In conclusion (i) At borderline elevation of TRV there is intrapatient variability and echocardiograms should be repeated for confirmation. (ii) Elevated PAP are reversible in children with early detection and treatment with hydroxyurea.
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PMID:Longitudinal follow up of elevated pulmonary artery pressures in children with sickle cell disease. 1905 65

The aim of this study was to determine the prevalence and associated factors for obstructive sleep apnea (OSA) among children with severe beta-thalassemia. Children with severe beta-thalassemia without a history of bone marrow transplantation were studied. Polysomnography (PSG) was performed in those who habitually snored to identify OSA. One hundred twenty children (aged 9.3 +/- 3.7 years; 42% male) were studied. Nineteen patients (15.8%) habitually snored. Sixteen had PSG performed. OSA was demonstrated in 10 patients. Six had moderate-to-severe OSA. The estimated prevalence of OSA was 8.3%. All OSA patients had adenoid hypertrophy and 80% had associated tonsil enlargement. The OSA group had a higher serum ferritin level compared to the non-OSA group (3,785 +/- 1,780 vs 1,885 +/- 677 ng/ml; p = 0.03). Six of 10 patients who had OSA underwent adenotonsillectomy. Reactive lymphoid hyperplasia was demonstrated in all cases. The estimated prevalence of OSA in children with severe beta-thalassemia was high (8.3%) and some had severe OSA. Adenotonsillar lymphoid hyperplasia was common among those who had OSA. A high serum ferritin level was associated with the occurrence of OSA. A history of snoring and OSA symptoms should be periodically assessed in children with severe beta-thalassemia.
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PMID:Obstructive sleep apnea among children with severe beta-thalassemia. 2308 66