Cases reported "hemochromatosis"

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1/380. Effect of venesection on bone mineral density in an eugonadal woman with haemochromatosis.

    BACKGROUND: A 41-year-old premenopausal woman with newly diagnosed haemochromatosis was found to have osteopenia on screening bone mineral densitometry. methods AND RESULTS: Liver biopsy showed grade 3 haemochromatosis with an hepatic iron index of 4. Investigation for secondary factors for osteopenia revealed no cause. The patient was clinically and biochemically eugonadal. Following venesection of 8 L blood (4 g iron) over 17 months and calcium supplementation, her bone density rose significantly. neck of femur bone density increased by 6.0% over 13 months and lumbar vertebral bone density increased by 7.2%. There are no previous reports of response of bone density to venesection in eugonadal patients or in women with haemochromatosis. ( info)

2/380. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.

    X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia. ( info)

3/380. Ferumoxide-enhanced MRI of sideronecrosis superimposed on genetic hemochromatosis.

    Genetic hemochromatosis is an autosomal recessive disorder characterized by excessive iron absorption from the gut, resulting in increased total body iron stores, multisystem organ dysfunction, and an increased risk of hepatocellular carcinoma. The magnetic susceptibility effects of excess hepatocellular iron generally cause diffuse hepatic signal loss on T2- or T2*-weighted MR images. Although hepatic iron deposition is usually diffuse, focal areas of iron sparing can occur, and, when present, superimposed neoplasm is a consideration. We describe a patient with cirrhosis, hemochromatosis, and multiple small benign relatively hyperintense iron-poor foci consisting of piecemeal sideronecrosis. ( info)

4/380. Inherited HFE-unrelated hemochromatosis in Italian families.

    hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. A minority of iron loaded patients have no mutations in this gene. An infrequent subset shows an early-onset aggressive disorder, denoted juvenile hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene. In two families the disorder is unlinked to 6p; in one family some features of the juvenile form are seen, but linkage to 6p is not excluded. Our results point to genetic forms of hemochromatosis not associated with HFE and raise the problem of whether non-HFE hemochromatosis in italy is related to the "juvenile" form. They also emphasize the importance of phenotypic as well as genetic diagnosis of HH. ( info)

5/380. Interpretation of iron studies in adolescent haemochromatosis.

    We report the case of a 14-year-old girl who originally presented at the age of eight with a history of bloody stools, abdominal pain and weight loss. Initial iron studies showed raised serum iron and transferrin saturation but low ferritin and were interpreted as consistent with iron deficiency under treatment. As she had not taken any supplemental iron she later underwent genetic testing for the Cys282Tyr and His63Asp mutations of the HFE gene. On the basis of these results, she was diagnosed as having hereditary haemochromatosis (HH). This case highlights that a low serum ferritin does not exclude the diagnosis of HH and that the availability of genetic testing can now enable probands and affected family members to be identified. ( info)

6/380. Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis.

    Two patients with hemophagocytic lymphohistiocytosis who presented with acute liver failure are reported. Both presented with fever, hepatosplenomegaly, markedly elevated liver function tests, abnormal coagulation profiles, and an increase in serum ferritin. Both infants were diagnosed with neonatal hemochromatosis based on a clinical picture of hepatic insufficiency with hyperferritinemia and were referred for liver transplantation. The first patient died of liver failure and septicemia before transplantation. review of autopsy material revealed a hepatitis-like pattern and extensive infiltration of liver and other organs including bone marrow by histiocytes, some of which were hemophagocytic. The second patient underwent liver transplantation but died 44 days thereafter from progressive hemophagocytic lymphohistiocytosis. Examination of the resected liver demonstrated a hepatitis-like pattern, proliferation of histiocytes, and hemophagocytosis, and the bone marrow revealed hemophagocytic histiocytosis. Hemophagocytosis recurred in the allograft. Hepatic manifestations are common in hemophagocytic lymphohistiocytosis and overt hepatic failure may occur, but initial presentation as fulminant hepatic failure is not well recognized. Elevated serum ferritin can make the distinction from neonatal hemochromatosis and other forms of neonatal liver failure difficult. Hemophagocytic lymphohistiocytosis should be considered in the differential diagnosis of neonatal liver disease, especially when it is accompanied by cytopenias. ( info)

7/380. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.

    BACKGROUND & AIMS: Most patients with genetic hemochromatosis are homozygous for a single mutation of the HFE gene (C282Y). There is a second mutation, H63D, but its role in iron overload is less conclusive. The aim of this study was to investigate the basis of iron overload in a patient with classical hemochromatosis who was only heterozygous for C282Y and negative for H63D. methods: genotype for the C282Y, H63D, and S65C mutations of HFE was determined in patient RFH, his family members, and 365 controls. The HFE gene was sequenced in patient RFH. Allele-specific reverse-transcription polymerase chain reaction was performed to investigate rna splicing. Allele frequency was determined by allele-specific oligonucleotide hybridization. RESULTS: The patient is compound heterozygous for C282Y and a novel splice site mutation (IVS3 1G --> T). His sister has an identical genotype and elevated serum ferritin and transferrin saturation. The novel mutation functionally alters messenger rna splicing, causing obligate skipping of exon 3. However, the IVS3 1G --> T mutation was found to be rare and was not detected in 630 control European chromosomes. CONCLUSIONS: IVS3 1G --> T in the compound heterozygous state with C282Y results in iron overload that can progress to a severe phenotype of classical hemochromatosis. The demonstration of IVS3 1G --> T highlights the possibility of other rare HFE mutations, particularly in C282Y heterozygotes with iron overload. ( info)

8/380. Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.

    Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis. ( info)

9/380. mucormycosis, a threatening opportunistic mycotic infection.

    mucormycosis is a rare and invasive mycotic opportunistic infection, occurring mostly in predisposed patients, mainly diabetics and immunocompromised individuals. The evolution of this fungal infection is frequently fatal unless aggressive treatment is started, or predisposing factors are handled. Our first patient was a known diabetic who had ketoacidotic coma at admission, complicated with pulmonary mucormycosis, and needed surgical resection followed by antimycotic therapy. The second patient did not survive his severe aplastic anemia (with neutropenia) and hemochromatosis (treated with desferrioxamine), complicated with a systemic rhizopus infection, despite treatment with amphotericin b and granulocyte-colony-stimulating factors. ( info)

10/380. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

    mutation analysis was performed on dna samples of 965 individuals from four different ethnic groups in south africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation polymorphism (HEX-SSCP) method, revealed three previously described and four novel missense mutations. Novel variants V53M and V59M were identified in exon 2, Q127H in exon 3 and R330M in exon 5. The exon 5 variant was identified in one of 13 patients referred for a molecular diagnosis of hereditary haemochromatosis (HH), who tested negative for the known C282Y and H63D mutations. mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. The mutant allele frequency of the C282Y mutation was found to be significantly lower in 73 apparently unrelated VP patients with the R59W mutation than in 102 controls drawn from the same population ( P = 0.005). The population screening approach used in this study revealed considerable genotypic variation in the HFE gene and supports previous data on the involvement of this gene in the porphyria phenotype. ( info)
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