300 International Journal of HEMATOLOGY Case Report Compound Heterozygote (C282Y/H63D) of Hereditary Hemochromatosis in a 16-Year-Old Girl with Hypoplastic Kidney Barbara Kaczorowska-Hac, a Katarzyna Sikorska, b Krzysztof P. Bielawski, c Krystyna Schramm, d Anna Balcerska a a Department of Pediatry, Hematology, Oncology & Endocrinology, Medical University of Gdan ´ sk, Gdan ´sk, Poland; b Department of Infectious Diseases, Institute of Internal Diseases, Medical University of Gdan ´ sk, Gdan ´sk, Poland; c Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdan ´ sk and Medical University of Gdan ´ sk, Gdan ´sk, Poland; d Department of Pediatric Nephrology, Medical University of Gdan ´ sk, Gdan ´sk, Poland Received January 16, 2006; received in revised form December 18, 2006; accepted January 15, 2007 Abstract Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochro- matosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure. Molecular studies have shown that hemochromatosis type 1 is pre- dominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are observed mostly after 40 years of age, often in men.We report the unusual case of a 16-year-old girl with an elevated serum iron level and a hypoplastic kidney. Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1. The early detection of hemochromatosis in the presented case may delay organ damage and failure due to iron overload. Int J Hematol. 2007;85:300-303. doi: 10.1532/IJH97.E0605 © 2007 The Japanese Society of Hematology Key words: Hemochromatosis; Heterozygosity; Iron 1. Introduction Hereditary hemochromatosis is a genetically heteroge- neous disease. The most common form of genetic disease is autosomal recessive hemochromatosis type 1, which is related to missense mutations (C282Y, H63D, S65C) in the HFE gene, which is localized on the short arm of chromo- some 6 near the HLA-A3 region [1]. The worldwide preva- lence of hereditary hemochromatosis in people aged 18 to 70 years is between 1.6 and 5.9 per thousand [2-4]. There is a difference, however, between the frequencies of the homozy- gous C282Y state and iron overload, and the frequency of the diagnosed disease. In hereditary hemochromatosis, increased iron absorption in the intestine leads to accumulation in different organs, resulting in progressive organ-failure symptoms [5]. Individuals with hemochromatosis present with different severities of iron overload, depending mainly on the duration of the disease [6]. The presence of mutation in the HFE gene is usually diagnosed secondary to the diagnosis of elevated iron storage [3]. Symptomatic organ disease occurs in the fifth and sixth decades of life, with predominant expression in men [2]. Most patients eventu- ally require maintenance phlebotomy or chelation therapy with deferoxamine. Primary iron overload is unusual in childhood. Hereditary hemochromatosis is suspected when blood tests reveal unexplained elevations in serum iron and transferrin saturation in at least 2 consecutive determina- tions. These abnormalities are an indication for HFE gene testing. 2. Case Report A 16-year-old girl was admitted to the Department of Hematology for diagnosis of an elevated iron concentration in the serum. She was the only child of young parents of Pol- ish origin and had no notable medical history or detectable Correspondence and reprint requests: Barbara Kaczorowska- Hac, MD, PhD, Department of Pediatry, Hematology, Oncology & Endocrinology, Medical University of Gdan ´ sk, 7 Debinki St, 80-211 Gdan ´ sk, Poland; 48583492860 (e-mail: sthac@amg.gda.pl).