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

Over the past 20 years allogeneic bone marrow transplantation has been increasingly utilized in the treatment of acute and chronic leukemias, aplastic anemia, severe forms of thalassemia, immunodeficiency syndromes and metabolic disorders due to a lack of specific enzymes in the monocyte-macrophage system. Despite the overall success of this approach and besides the so-called classic complications arising from the toxicity of the conditioning regimen, occurrence of GVH disease and interstitial pneumonitis, there are other less common complications which have been reported mainly by teams transplanting on a large number of patients. With only a limited experience, concerning 60 patients with transplants between May 1987 and May 1991, we have seen some unusual complications such as toxoplasma encephalitis, myasthenia gravis and aseptic bone necrosis, which may give rise to difficult diagnostic and therapeutic decisions.
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PMID:[Unusual complications of bone marrow transplantation. Experience at the BMT Unit of the Francisco Gentil Portuguese Institute of Oncology, Lisbon Center]. 180 30

Iranian Jews represent an ancient community with a very high degree of inbreeding. Although the community remained relatively isolated, it had strong ties with Babylonian Jewry in Iraq. Several genetic disorders have been reported to be frequent among Iranian Jews, in particular, corticosterone methyloxydase deficiency type II, polyglandular syndrome, and rimmed vacuole myopathy. Based on the data collected in our clinic, recessive and dominant deafness also appear to be frequent. Other diseases, such as beta-thalassemia, achromatopsia, colobomatous microphthalmia, Dubin-Johnson syndrome, and congenital myasthenia gravis, were frequent in both the Iranian and Iraqi Jewish communities. The place of origin of the families within Iran and the results of molecular studies suggest some reason(s) for the high frequency of these disorders among Iranian Jews. While the high frequency of some of the disorders, such as corticosterone methyloxydase deficiency type II, represents a founder effect, in other diseases (such as beta-thalassemia) it was secondary to heterozygote advantage.
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PMID:Hereditary disorders among Iranian Jews. 757 53