Hematopoietic porphyria

Hematopoietic porphyria is a rare genetic disorder affecting the production of heme, the molecule responsible for carrying oxygen in your blood. This condition results from a deficiency of specific enzymes in the heme synthesis pathway within blood-forming (hematopoietic) cells. It can cause symptoms like anemia, skin sensitivity to sunlight, and neurological issues. Because it involves the blood and bone marrow, symptoms may appear as skin problems or blood-related abnormalities. Diagnosis typically includes blood, urine, and stool tests, and management focuses on avoiding triggers, protecting the skin, and sometimes using medications or specialized treatments.