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)

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

Dubin-Johnson syndrome is a worldwide prevalent familial conjugated hyperbilirubinaemia. The identification of multidrug resistance-associated protein 2 provided an understanding of the complex metabolic impairment involved in this syndrome. We report the first family with modified clinical expression of Dubin-Johnson heterozygous state due to genotypic interaction with co-inherited beta and deltabeta thalassaemia, an interaction that has never been described.
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PMID:Clinical expression of co-inherited Dubin-Johnson and thalassaemic heterozygous states. 1656 88