Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene by Thomas Matthes, Patricia Aguilar-Martinez,

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Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene by Thomas Matthes, Patricia Aguilar-Martinez, Loredana Pizzi-Bosman, Régis Darbellay, Laura Rubbia-Brandt, Emilio Giostra, Martine Michel, Tomas Ganz, and Photis Beris Blood Volume 104(7):2181-2183 October 1, 2004 ©2004 by American Society of Hematology

DNA and RNA analysis. DNA and RNA analysis. (A) DNA sequencing of the HAMP gene led to identification of a new mutation at position +14 from the Cap site of the mRNA. Left side: wild-type nucleotide G at position +14; right side: mutated nucleotide A. (B) RNA was extracted from a biopsy obtained from the proband's liver and analyzed by RT-PCR for the presence of HAMP cDNA. The ethidium bromide stained agarose gel shows similar expression of the patient's HAMP cDNA (lane 4) compared with cDNA obtained from normal (lanes 1-2) and cirrhotic livers (lane 3). RT-PCR for abl was performed in parallel to ensure that equal quantities of cDNA were used for each PCR. Real-time PCR was performed for a more accurate determination of HAMP cDNA levels. The table shows only minor variations of the HAMP/abl ratios between the different samples (1-2, normal liver; 3, cirrhotic liver; 4, proband's liver). Thomas Matthes et al. Blood 2004;104:2181-2183 ©2004 by American Society of Hematology

Map of the 5′-UTR region of the HAMP gene. Map of the 5′-UTR region of the HAMP gene. The normal hepcidin peptide is derived from the C-terminus of an 84 amino acid prepropeptide, encoded by a 0.4-kb mRNA, generated from 3 exons of a 2.5-kb gene on chromosome 19. The G → A mutation at position +14 creates a new AUG codon, which leads to a shift of the reading frame, inhibition of the synthesis of the normal hepcidin protein, and probably generation of a new abnormal protein instead. Kozak sequences are underlined. The initiation codon AUG is given in bold. Thomas Matthes et al. Blood 2004;104:2181-2183 ©2004 by American Society of Hematology