Dark liver on MRI: throwing light on clinically unsuspected hemochromatosis in double heterozygote HbE-beta thalassemia
DOI:
https://doi.org/10.18203/2320-6012.ijrms20162344Keywords:
HbE beta thalassemia, Hemochromatosis, Iron overload, MRIAbstract
Secondary hemochromatosis is a well-known complication in thalassemic patients under regular blood transfusions and can be diagnosed based on clinical suspicion and biochemical tests in this setting. However, double heterozygote HbE-β thalassemic is an uncommon form of thalassemia where the clinical course is highly variable and iron deposition in liver, endocrine glands and myocardium similar to primary hemochromatosis can occur in non-transfused patients. We report the MRI diagnosis of erythropoietic hemochromatosis involving liver and adrenal gland in one such rare case presenting in adulthood with severe anemia.
References
Buljubasic D, Ladenhauser-Palijan T, Debeljak Z. Homozygous form of hereditary hemochromatosis in a patient with beta-thalassemia minor: case report. Biochemia Medica. 2009;19(2):199-205.
Ito K, Hussain SM, Mitchell DG. Diffuse liver disease. In: Edelman RR, Hesselink J, Zlatkin M, eds. Clincial Magnetic Resonance Imaging.3rd edn. Saunders; 2005.
Vichinsky E. Hemoglobin E. syndromes. Hematology Am Soc Hematol Educ Program. 2007:79-83.
Boll DT, Merkle EM. Liver: normal anatomy, imaging techniques and diffuse diseases. In: Haaga JR, Dogra VS, Forsting M et al, editors. CT and MRI of the Whole Body.5th edn. Elseviers; 2008.
Kontoghiorghe CN, Kontoghiorghes GJ. New Developments and controversies in iron metabolism and iron chelation therapy. World J Methodol. 2016;6(1):1-19.
Agarwal S, Gulati R, Singh K. Hemoglobin E beta thalassemia in Uttar Pradesh. Indian Pediatrics. 1997;34:287-92.
Panigrahi I, Agarwal S, Gupta T, Singhal P, Pradhan M. Hemoglobin E-beta thalassemia: factors affecting phenotype. Indian Pediatrics. 2005;42:357-62.