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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of neurological complications occur with sickle cell hemoglobinopathy. The most striking and most common is cerebral infarction. It is also the most devastating. Because of the high recurrence rate in untreated patients, cerebral infarction is the most debilitating neurological complication. The observed frequency varies from 6% to as high as 34% in different reports. The pathogenesis, clinical features, and demography are discussed. Diagnostic procedures should include a spinal tap to rule out potentially treatable lesions. CT scan and cerebral angiography may also be helpful in certain cases. Transfusion therapy remains the mainstay of management in the acute phase of cerebral infarction. There is considerable evidence to indicate that long-term transfusion programs are effective in the prevention of recurrences. Intracranial hemorrhage, spinal cord infarction, isolated neuropathies due to anatomical proximity to infarcted bones, lead neuropathy, auditory problems, and ocular manifestations are other neurological problems which can affect patients with sickle cell disease.
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PMID:Neurological complications of sickle cell anemia. 716 88

We determined the accuracy of neurologic examination and the history of a previous neurologic event in detecting clinical evidence of a magnetic resonance imaging (MRI)-diagnosed cerebral infarction in 30 children with sickle cell hemoglobinopathy. Each patient had an MRI of the brain, neurologic examination, chart review, and psychometric evaluation. Seventeen children (57%) had MRI evidence of cerebral infarction based on demonstration of parenchymal abnormalities in a vascular distribution. Among the 17 children with MRI evidence of cerebral infarction, only 12 (71%) had an abnormal neurologic examination, and 11 (65%) had a history of a prior neurologic event. In contrast, among the 13 children with normal MRIs, 12 (92%) had normal neurologic examinations, and no child had a previous history of a neurologic event. Multiple, bilateral, heterogeneous cerebral infarctions frequently occur without overt neurologic signs or symptoms in children with sickle cell hemoglobinopathy. Previous studies that relied on a focal neurologic examination or a history of a neurologic event to identify cerebral infarctions in patients with sickle cell hemoglobinopathy most likely underrepresented the true frequency of cerebral infarctions in this population. Future prospective studies of cerebral infarctions in children with sickle cell hemoglobinopathy should include MRIs for identification and classification, rather than neurologic examination or clinical history alone.
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PMID:Accuracy of neurologic examination and history in detecting evidence of MRI-diagnosed cerebral infarctions in children with sickle cell hemoglobinopathy. 778 14

Cerebral infarction before the age of 45 years accounts for 4-6% of all strokes. The etiology remains unexplained in a significant proportion of patients even after extensive investigations. The reported risk factors of this age group are cardiopathies, hypertension, smoking, hypercholesterolemia, reduction of anticoagulant proteins, hypercoagulable states, antiphospholipid antibodies primary syndrome, antiphospholipid antibodies secondary syndrome, some hemoglobinopathies, hyperviscosity syndromes, vasculitis, collagen vascular diseases, fibromuscular dysplasia, arterial dissections, migraine, myopathy encephalopathy lactic acidosis stroke like episodes, homocystinuria, familial amyloid angiopathy, microangiopathy with retinopathy encephalopathy and deafness, systemic lupus erythematosus, use of cocaine, traumas or manipulations of neck, AIDS. From 1/1/94 to 04/30/95 we observed 19 patients with cerebral infarctions and 9 patients with transitory ischemic attacks in young people. The aim of our study was to apply a diagnostic protocol by sequential tests of first level and second level. According to this protocol we found that the more common risk factors were ischemic cardiopathy, hypertension, smoking and hypercholesterolemia. Moreover we observed other independent risk factors, although less frequent, like the antiphospholipid antibodies, neurolupus, AIDS, deficit of protein S.
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PMID:[The application of a new diagnostic protocol for stroke in the young]. 876 46

Sickle cell disease (SCD) is a common form of hemoglobinopathy and is highly prevalent worldwide. Silent cerebral infarction, which represents infarction without clinical signs, is a risk factor for clinical stroke in patients with SCD. It is well known that silent infarction predisposes patients with SCD to overt stroke. The aim of the present study is to investigate the effect of silent infarction on neurological soft signs (NSS), which demonstrate subtle impairments in sensory integration, motor coordination and the sequencing of complex motor acts and to evaluate whether NSS can be used in clinical practice to evaluate the patients at risk of stroke in SCD patients with silent infarction. Fifty-nine SCD patients without any documented history of cerebrovascular accident and 28 healthy controls were included in this study. All the patients with SCD were evaluated with cerebral magnetic resonance imaging. We found that the NSS scores were significantly higher in patients with silent cerebral infarction than those in patients without silent infarction and control subjects (p < 0.05). Importantly, there was no significant difference in the NSS scores between the patients without silent infarction and control subjects. These results indicate that high NSS scores represnt an important finding for diagnosis of silent infarction in SCD patients. As silent infarction increases the risk for stroke in patients with SCD, NSS can be used to provide additional information in diagnosis of the patients with possible stroke risk during the course of SCD.
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PMID:Neurological soft signs as the stroke risk in sickle cell disease. 1670 55

Moyamoya disease is a rare cerebrovascular condition characterized by steno-occlusive disease of the major intracranial arteries at the base of the brain, and the appearance of innumerable, tiny, arterial collaterals that resemble a "puff of smoke." Although it has been associated with hematologic diseases such as sickle-cell disease, the association with other hemoglobinopathies is less frequently observed. We describe the association of a unique hemoglobinopathy (hemoglobin Fairfax) with beta-thalassemia and moyamoya disease in a 9-year-old girl with a history of stroke. To our knowledge, this is the first report of this unstable hemoglobin with moyamoya disease, and it emphasizes the potential for cerebral infarction due to the severe anemia of hemolytic disease.
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PMID:Moyamoya disease associated with hemoglobin Fairfax and beta-thalassemia. 1820 95

Sickle cell disease is hereditary hemoglobinopathy which causes haemolytic anemia, vaso-occlusive crisis, ischemic injuries and many other morbidities like cerebral infarction. In this report, we describe a case of a young patient with sickle cell disease presenting with right-sided weakness and slurring of speech with examination confirming right-sided hemiparesis with motor aphasia. On further investigation, she was found to have frontotemporal infarction. On magnetic resonance imaging with angiography, she was found to have absent circulation in left internal carotid artery probably secondary to sickle cell disease. Major vessel occlusion is rare complication of sickle cell disease that one must bear in mind.
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PMID:Major artery occlusion: a rare complication of sickle cell disease. 2141 49