porphyria

(redirected from Congenital sideroblastic anaemia)
Also found in: Thesaurus, Medical, Encyclopedia.
Related to Congenital sideroblastic anaemia: sideroblastic anemia

por·phyr·i·a

 (pôr-fîr′ē-ə)
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·phyr′ic adj.

porphyria

(pɔːˈfɪrɪə)
n
(Pathology) a hereditary disease of body metabolism, producing abdominal pain, mental confusion, etc
[C19: from New Latin, from porphyrin a purple substance excreted by patients suffering from this condition, from Greek porphura purple]

por•phyr•i•a

(pɔrˈfɪər i ə, -ˈfaɪ ri ə)

n.
a hereditary defect of blood pigment metabolism marked by an excess of porphyrins in the urine and an extreme sensitivity to sunlight.
[1920–25]

porphyria

A group of disorders that all cause excess of the nitrogenous factors in hemoglobin (which transports oxygen) in the blood. The symptoms are severe.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
Translations

porphyria

[pɔːˈfɪrɪə] Nporfirismo m

por·phyr·i·a

n. porfiria, defecto metabólico congénito que se caracteriza por exceso de porfirina en la sangre, en la orina y en las heces fecales, causando numerosos trastornos físicos y psiquiátricos.

porphyria

n porfiria; — cutanea tarda porfiria cutánea tarda
References in periodicals archive ?
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.
Later, the researchers identified 10 additional causal mutations of this gene in other unexplained cases of congenital sideroblastic anaemia, and also showed a direct role of the gene in haemoglobin synthesis in zebra fish.

Full browser ?