| Title | Hereditary spherocytosis and hemochromatosis. | | Author(s) | Brandenberg JB, Demarmels Biasiutti F, Lutz HU, Wuillemin WA | | Institution | Central Haematology Laboratory, University Hospital, Inselspital, 3010 Berne, Switzerland. | | Source | Ann Hematol 2002 Apr; 81(4):202-9. | | MeSH | Adult
Aged
Cytogenetic Analysis
Family Health
Female
Hemochromatosis
Histocompatibility Testing
Homozygote
Humans
Iron Overload
Male
Middle Aged
Pedigree
Point Mutation
Spherocytosis, Hereditary
Splenectomy
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 11976822 |
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