Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Beta-thalassemia

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

Portal hypertension

Increased pressure in the portal vein.

Total: 1

(per page)

PMID (PMCID)
11421105	MIXED_SAMPLE	Adult
	Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred.
	Ruiz-Arguelles GJ, Garces-Eisele J, Reyes-Nunez V, Sanchez-Anzaldo J, Ruiz-Delgado GJ, Jimenez-Gonzalez C, Carrera B. Rev Invest Clin. 2001;53(2):117-20.
	We describe here a kindred in which the propositus, being heterozygote for beta-thalassemia and the H63D mutation of the HFE gene, developed severe iron overload and in turn, chronic liver failure with portal hypertension.