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porphyria
(redirected from Congenital sideroblastic anaemia)

   Also found in: Medical, Encyclopedia, Wikipedia 0.02 sec.
por·phyr·i·a  (pôr-fîr-)
n.
Any of several disorders of porphyrin metabolism, usually hereditary, characterized by the presence of large amounts of porphyrins in the blood and urine.

[New Latin : porphyr(in) + -ia.]

por·phyric adj.

porphyria [pɔːˈfɪrɪə]
n
(Medicine / Pathology) a hereditary disease of body metabolism, producing abdominal pain, mental confusion, etc.
[from New Latin, from porphyrin a purple substance excreted by patients suffering from this condition, from Greek porphura purple]
ThesaurusLegend:  Synonyms Related Words Antonyms
Noun1.porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
Translations
porphyria [pɔːˈfɪrɪə] Nporfirismo m


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By using new technologies developed by the Human Genome Project, the molecular analysis team succeeded in defining a genomic region, which was suspected to inhabit the gene responsible for congenital sideroblastic anaemia in these families.
 
 
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