Introduction

Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused mostly by mutations in the HFE  gene located on chromosome 6. It is characterized by an excessive accumulation of iron in the body, and affects 0.3% to 0.5% of Caucasians of northern European descent.1 Increased intestinal absorption of iron leads to iron overload in several organs, resulting in various manifestations such as liver cirrhosis, hepatocellular carcinoma (HCC), diabetes, arthritis, and cardiomyopathy.2
β-thalassemia is an inherited hemoglobinopathy characterized by reduced synthesis of one or both of the β-globin chains of adult hemoglobin. Two β-globin genes are present on chromosome 11. The β-globin genes (β/β) produce the β-globin chains, which compose normal adult hemoglobin. Their mutations result in an absence (β0) or diminished production (β+) of the β-globin chain. β-thalassemia minor (BTM) (β+/β, β0/β) is the mildest form of the disease, and is usually an asymptomatic carrier state. It manifests as mild anemia with microcytosis and hypochromia of the red blood cells (RBCs), and can be mistaken for iron deficiency anemia (IDA). Individuals with BTM develop mild ineffective erythropoiesis, which increases iron absorption; however, most of them do not develop iron overload.3
The coexistence of HH and β-thalassemia has not been reported from Nepal to the best of our knowledge. Herein, we describe the case of a 73-year-old man suspected with IDA, who was eventually diagnosed to have hemochromatosis resulting from coincidental BTM and H63D homozygous HH and long-term iron supplementation.