Primary Hemochromatosis With Hereditary Spherocytosis

Zimelman, Abraham P.; Miller, Aaron

doi:10.1001/archinte.1980.00040020983025

Cited by 13 publications

(5 citation statements)

References 13 publications

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“…Only 24 cases of congenital spherocytosis associated with iron overload have been reported in the literature [7-17]. The association of some other hemolytic anemias, including acanthocytosis, sickle cell anemia and thalassemia, and hereditary hemochromatosis has also been described [29-31].…”

Section: Discussionmentioning

confidence: 99%

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Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

et al. 2009

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Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

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Section: Discussionmentioning

confidence: 99%

“…About 20 cases with iron overload and HS have been reported since [7-17]. Here we report a case of a young woman with coinheritance of HS and genetically proven hemochromatosis.…”

Section: Introductionmentioning

confidence: 94%

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

et al. 2009

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“…There is now evidence that some patients with major iron overload may have at least one allele for haemochromatosis. This has been described for hereditary spherocytosis (Zimelman and Miller, 1980;Blacklock and Meerkin, 1981) and thalassaemia minor (Edwards et al, 1981b). It has been suggested that patients with idiopathic irreversible sideroblastic anaemia may need at least one haemochromatosis gene in order to develop the disease (Cartwright et al, 1980).…”

Section: Association Of Idiopathic Haemochromatosis Gene With Other Dmentioning

confidence: 71%

Iron and haemochromatosis

Worwood¹

1983

J of Inher Metab Disea

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There have recently been considerable advances in the understanding of the inheritance of idiopathic haemochromatosis (McKusick 23520). The disorder is determined by a locus closely linked to the HLA loci on the short arm of chromosome 6. There is a recessive mode of transmission. The gene frequency may be as high as 0.05 in some parts of the world. HLA typing makes it possible to identify family members who are homozygous for idiopathic haemochromatosis and measurement of transferrin saturation and serum ferritin concentration will identify those with iron overload. Treatment is by regular phlebotomy. Few advances have been made in the 50 years in the understanding of the abnormality which permits the increased absorption of iron and which causes the iron overload.

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“…Patient 2 had spherocytosis, although it was not possible to demonstrate that this was a heritable trait. Some patients with hereditary spherocytosis who coinherited abnormal HFE alleles had increased absorption of ''physiologic'' doses of radiolabeled inorganic iron [44] and developed iron overload without the ingestion of supplemental iron [45,46]. Other patients, like Patient 2, had no HFE missense mutations [47].…”

Section: Discussionmentioning

confidence: 99%

Iron overload and prolonged ingestion of iron supplements: Clinical features and mutation analysis of hemochromatosis‐associated genes in four cases

et al. 2006

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We evaluated and treated four white adults (one man, three women) who had iron overload associated with daily ingestion of iron supplements for 7, 15, 35, and 61 years, respectively. We performed HFE mutation analysis to detect C282Y, H63D, and S65C in each patient; in two patients, HFE exons were sequenced. In two patients, direct sequencing was performed to detect coding region mutations of TFR2, HAMP, FPN1, HJV, and ALAS2. Patients 1-4 ingested~153, 547, 1,341, and 4,898 g of inorganic iron as supplements. Patient 1 had hemochromatosis, HFE C282Y homozygosity, and b-thalassemia minor. Patient 2 had spherocytosis and no HFE coding region mutations. Patient 3 had no anemia, a normal HFE genotype, and no coding region mutations in HAMP, FPN1, HJV, or ALAS2; she was heterozygous for the TFR2 coding region mutation V583I (nt 1,747 G?A, exon 15). Patient 4 had no anemia and no coding region mutations in HFE, TFR2, HAMP, FPN1, HJV, or ALAS2. Iron removed by phlebotomy was 32.4, 10.4, 15.2, and 4.0 g, respectively. There was a positive correlation of log 10 serum ferritin and the quantity of iron removed by phlebotomy (P = 0.0371). Estimated absorption of iron from supplements in patients 1-4 was 20.9%, 1.9%, 1.1%, and 0.08%. We conclude that the clinical phenotypes and hemochromatosis genotypes of adults who develop iron overload after ingesting iron supplements over long periods are heterogeneous. Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload. Am. J. Hematol. 81:760-767, 2006. V V C 2006 Wiley-Liss, Inc.

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Primary Hemochromatosis With Hereditary Spherocytosis

Cited by 13 publications

References 13 publications

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

Iron and haemochromatosis

Iron overload and prolonged ingestion of iron supplements: Clinical features and mutation analysis of hemochromatosis‐associated genes in four cases

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