Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven patients had sickle cell trait (hemoglobin AS) and vasoproliferative retinopathy. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies (sickle cell-hemoglobin C disease, hemoglobin S-thalassemia disease, and sickle cell anemia). All seven patients also had some evidence of associated systemic disease such as diabetes, syphilis, tuberculosis, or sarcoidosis. In the presence of an associated systemic disease, marked retinopathy can occur in the ordinarily benign condition of sickle cell trait.
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PMID:Proliferative retinopathy in sickle cell trait. Report of seven cases. 84 50

A case of Salmonella costochondritis developed at a traumatic focus in a 37-yr-old Hispanic male without hemoglobinopathy or systemic disease. Bone scans and gallium scans were initially positive and remained abnormal, despite a variable clinical course and repeatedly negative serology and blood cultures. Scintigraphy was valuable for both detection and monitoring of antibiotic treatment, as well as providing localization for subsequent surgical resection.
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PMID:Gallium detection of Salmonella costochondritis. 319 13

Angioid streaks are often associated with a systemic condition, most frequently pseudoxanthoma elasticum, Paget's disease of the bone, or one of the sickle hemoglobinopathies. The clinical manifestations of angioid streaks and those three systemic conditions are reviewed. A diagnostic survey is suggested for patients discovered to have angioid streaks with no known systemic disease. The results of such a survey in 50 patients are presented. In addition, separate studies of patients with Paget's disease of the bone (50 patients) and of the sickle hemoglobinopathies (100 patients) are described, and the characteristics of patients with angioid streaks as well as the incidence of streaks in these conditions is reviewed. The histopathologic and fluorescein angiographic characteristics of angioid streaks, as well as the possible benefit of photocoagulation for complications of angioid streaks is discussed.
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PMID:Angioid streaks. 704 15

In patients with angioid streaks, additional investigations are useful to identify underlying systemic disease, unless age and short peripapillary streaks are indicative of senile streaks as an isolated abnormality. In middle-aged or young adults with angioid streaks and no obvious systemic disease, the possibility of a hemoglobulinopathy or pseudoxanthoma elasticum (PXE) as etiologic entities should be investigated. Hemoglobinopathies can be excluded based on blood screening and the absence of typical ocular fundus changes, such as retinal vessel tortuosity. This allows making a presumed clinical diagnosis of PXE in patients with angioid streaks, based on exclusion of a hemoglobinopathy, and on the presence of extensive angioid streaks, peau d'orange, crystalline bodies and comet tail lesions. For confirmation of PXE, the gold standard was dermatologic examination and skin biopsy, but since the last decade molecular diagnosis is available. In rare cases, PXE can be diagnosed using molecular techniques in patients with apparently normal skin and negative skin biopsies, as demonstrated in this case and another case published in 2011.
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PMID:Pseudoxanthoma elasticum confirmed by genetic analysis but not by skin biopsy: a case report and review of the literature. 2492 87