Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The folic acid clearance test of Chanarin (1958) has been studied in normal white subjects, patients with megaloblastic anaemia, healthy Bantu males, Bantu females, hospital patients without anaemia, and in patients with scurvy. The test clearly distinguishes patients with megaloblastic anaemia, where clearance from the plasma of injected folic acid is abnormally rapid, from normal subjects. The rate of clearance of folic acid is abnormally rapid both in vitamin B(12) and in folic acid deficiency. Rapid clearance of injected folic acid in patients with primary B(12) deficiency may be the result of a conditioned deficiency of folic acid. The test is sufficiently sensitive to detect body deficiency of folic acid before the development of anaemia. In patients with scurvy, folic acid is cleared from the plasma abnormally rapidly. It is suggested that this may be the result of an associated dietary deficiency of folic acid.
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PMID:The plasma clearance of injected doses of folic acid as an index of folic acid deficiency. 1447 46

Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer. We report that a deletion mutation in the FANCG gene (c.637_643delTACCGCC) was present in 82% of FA patients in the black populations of Southern Africa. These patients originated from South Africa, Swaziland, Mozambique, and Malawi. The mutation was found on the same haplotype and was present in 1% of controls from the black South African population. These data indicate that the birth incidence of FA in this population is higher than 1 in 40 000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa. Diagnostic screening is now possible by means of a simple DNA test.
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PMID:A common Fanconi anemia mutation in black populations of sub-Saharan Africa. 1565 75


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