Cases reported "Hemochromatosis"

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1/5. Hereditary spherocytosis and hemochromatosis.

    A 37-year-old male, splenectomized at the age of 1 year, was admitted to the ward with severe chest pain and signs of cardiogenic shock. Clinical investigations revealed the presence of both hemochromatosis and hereditary spherocytosis (HS). HLA typing showed A3,B7 and A24,B57 haplotypes and genetic analysis revealed homozygosity for the C282Y mutation. A family study was performed. The parents and four brothers were heterozygous for the C282Y mutation. Two of the brothers also presented high levels of iron stores and they had been splenectomized because of HS, while two other siblings had neither spherocytosis nor hemochromatosis. The mother had a mild anemia with dehydrated red blood cells (RBC), while the father appeared to have low-density, but normal RBC; none of them presented with spherocytosis. All siblings with spherocytosis and elevated iron stores showed a RBC density distribution similar to the mother. We present the first case with genetically proven hemochromatosis in combination with spherocytosis, focusing on the various possibilities of iron accumulation in individuals with spherocytosis and heterozygosity for the C282Y mutation.
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keywords = spherocytosis
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2/5. association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

    Two siblings, both splenectomized at an early age for hereditary spherocytosis, had a severe hemochromatosis develop. The human leukocyte antigen (HLA) system typing showed that they were half HLA identical. All the other members of the family who did not have evidence of hereditary spherocytosis, including those who displayed identical HLA haplotypes with the two patients, did not have any increase in iron stores. These results suggest that the two siblings are heterozygous for idiopathic hemochromatosis and that the coexistence of this condition with hereditary spherocytosis can cause a severe iron overload.
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ranking = 0.7
keywords = spherocytosis
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3/5. An autopsy case of hemochromatosis and hepatoma combined with hereditary spherocytosis.

    A case of hemochromatosis and hepatocellular carcinoma secondary to hereditary spherocytosis is very rare and this is only the second case reported in an English language bulletin. When the patient, a 56 years old man, was admitted for receiving cholecystectomy for cholelithiasis, a diagnosis of hemochromatosis secondary to hereditary spherocytosis was made by liver biopsy and hematological examination data. The patient did not receive a blood transfusion nor was administered iron during the entire duration of the illness. Hepatoma was suspected at the time of splenectomy which was performed in 1981 because of severe anemia. Eight months later he died of massive abdominal cavity bleeding and subsequent autopsy findings were consistent with the disease mentioned above. Clinical and postmortem examinations suggested that conspicuously enhanced erythropoiesis in the bone marrow and unknown factors may be responsible for an increase in iron absorption from the gut and in the amount of stored body iron, leading to the development of hemochromatosis.
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ranking = 0.6
keywords = spherocytosis
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4/5. iron overload in hereditary spherocytosis: association with HLA-linked hemochromatosis.

    Heavy iron loading is a rare clinical finding in patients with hereditary spherocytosis. A pedigree was studied in which the proband, a 38-year-old man, had both hereditary spherocytosis and overt hemochromatosis. He had never received blood transfusions. The 8-year-old son of the proband also had hereditary spherocytosis and mildly increased iron stores. The 39-year-old brother of the proband did not have spherocytosis but did have overt hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree only individuals with two hemochromatosis alleles (homozygosity) had heavy iron loads, whether hereditary spherocytosis was present or not. The presence of hereditary spherocytosis may have contributed to the magnitude of the iron loading but was not a major factor. Our findings suggest that nontransfusional hemochromatosis found in association with hereditary spherocytosis is due primarily to homozygosity for hemochromatosis.
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ranking = 1.1
keywords = spherocytosis
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5/5. Primary hemochromatosis with hereditary spherocytosis.

    A patient with both hereditary spherocytosis and hemochromatosis is described. At the time of the initial diagnosis of hereditary spherocytosis and shortly after splenectomy, 8 g of iron was removed by phlebotomy. During the next 15 years, the patient continued to accumulate excess iron despite splenectomy-induced remission of the hemolytic disorder. Thus the hemochromatosis in this patient was not secondary to the hereditary spherocytosis but rather represented a primary, ie, genetic abnormality of iron absorption.
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ranking = 0.7
keywords = spherocytosis
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