IllnessJuvenile hemochromatosis [type 2], differential diagnosis

NGS +

In hereditary hemochromatosis, the organism absorbes too much dietary iron, which is then stored primarily in the skin, heart, liver, pancreas and joints. The lacking ability to excrete iron leads to overload and eventually damage to tissues and organs. Initial symptoms include fatigue, joint and abdominal pain, weight loss etc. Affected individuals may develop arthritis, liver fibrosis/cirrhosis or cancer, diabetes, heart problems and/or skin discoloration. The severity of symptoms also depends on environmental and lifestyle factors. There are four types of hereditary hemochromatosis, which are differentiated by age at onset and other factors such as genetic cause and inheritance pattern. Hemochromatosis type 2 is a rare disease that occurs in childhood. By age 20, iron accumulation leads to decreased or absent secretion of sex hormones. In affected women, menstruation usually began normally, but stops after a few years. In males, delayed puberty or symptoms associated with sex hormone deficiency may occur. If hemochromatosis type 2 is left untreated, potentially fatal heart disease can develop by age 30. Mutations in several genes can cause the different types of hemochromatosis. Type 2 is caused by mutations in the HJV or HAMP gene. Mutations in 5-6 other genes cause the other types and are included in the differential diagnosis. Given that there are only about 120 verified cases of hereditary hemochromatosis type 2, the diagnostic yield is unknown. A negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1170/

• Alias: Hemochromatosis Type 2
• Alias: Juvenile Hereditary Hemochromatosis
• Allelic: Alzheimer disease, susceptibility to (HFE)
• Allelic: Cerebellar ataxia (CP)
• Allelic: Delta-beta thalassemia (HBB)
• Allelic: Erythrocytosis 6 (HBB)
• Allelic: Heinz body anemia (HBB)
• Allelic: Hereditary persistence of fetal hemoglobin (HBB)
• Allelic: Hypoceruloplasminemia, hereditary (CP)
• Allelic: Malaria, resistance to (HBB)
• Allelic: Methemoglobinemia, beta type (HBB)
• Allelic: Microvascular complications of diabetes 7 (HFE)
• Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
• Allelic: Porphyria variegata, susceptibility to (HFE)
• Allelic: Sickle cell anemia (HBB)
• Allelic: Thalassemia, beta (HBB)
• Allelic: Thalassemia-beta, dominant inclusion-body (HBB)
• Allelic: Transferrin serum level QTL2 (HFE)
• Anemia, hypochromic microcytic, with iron overload 1 (SLC11A2)
• Atransferrinemia (TF)
• Hemochromatosis (HFE)
• Hemochromatosis, type 2A (HJV)
• Hemochromatosis, type 2B (HAMP)
• Hemochromatosis, type 3 (TFR2)
• Hemochromatosis, type 4 (SLC40A1)
• Hemosiderosis, systemic, due to aceruloplasminemia (CP)
• Iron overload, susceptibility to (BMP6)
• Thalassemia intermedia (HBB)