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

Seven cases with the syndrome of thalassemia minor and pauciarticular, non-erosive, seronegative arthritis are described. Other known causes of seronegative arthritis had been excluded. There was a predilection for middlesized joints such as ankles, wrists and elbows. Usually the synovitis was asymmetrical from onset, with one to eight joints affected. Finger or toe joint were usually spared. Extraarticular synovitis such as tenosynovitis or bursitis were not observed, nor were nodules, signs of vasculitis or visceral involvement. The course of this arthritis showed chronicity and mild, persistent, non-erosive synovitis without joint effusions. X-ray revealed juxtaarticular osteoporosis of the affected joints, characterized by a diminution of the number of trabeculae (hypertrophic atrophy) combined with broadening of the singular trabeculae; this picture is typical of hemoglobinopathies. - Computed tomography showed a probable slight deficit of bone mineralization. Laboratory investigations including ESR, routine immunological tests, blood chemistry, and HLA-tissue typing were all normal. - The combination of this peculiar arthropathy with thalassemia minor would appear to be worthy of note and requires a further search among the forms of arthritis of unknown origin.
 ...
PMID:[Arthritis in thalassemia minor]. 89 52

Twelve patients with sickle cell hemoglobinopathies and arthropathy were studied, using technetium Tc 99m sulfur colloid bone marrow scans. Eight of 12 had decreased marrow radionuclide activity adjacent to painful joints, suggestion obliteration of vessels supplying bone marrow. Four patients without marrow defects on scanning had causes other than infarction for their joint symptoms, viz, small fractures, postinfectious synovitis, degenerative arthritis, and osteochondromas. Roentgenograms never showed bony abnormalities in five patients with marrow infarctions, and, in three others, showed defects several months later than did the marrow scans. Bone marrow scans offer a sensitive and early diagnostic aid in sickle cell hemoglobinopathies with arthropathy.
 ...
PMID:Bone marrow scan evaluation of arthropathy in sickle cell disorders. 126 51

In this report, we have described three patients who had hemarthroses, with sickled red blood cells discovered by analysis of synovial fluid. On the basis of this observation, each patient was evaluated for the presence of abnormal hemoglobins, and each was found to have a hemoglobinopathy that was previously unsuspected. These patients differ from those in other reports in that two of the three had no associated arthritic condition that could readily explain synovitis or a condition that predisposed them to bleeding into a joint. Although the accumulated evidence suggests that heterozygous hemoglobinopathies do not produce arthritic syndromes, these reports again raise that question. We cannot conclude, however, that the hemarthroses were definitively caused by the underlying hematologic abnormality. Important when synovial fluid is mixed with blood, since other medical conditions can be diagnosed if abnormal findings are detected.
 ...
PMID:Sickled cells in synovial fluid: clue to unsuspected hemoglobinopathy. 266 Feb 94