Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to diphosphoglycerate mutase (DPGM) deficiency, also known as bisphosphoglycerate mutase (BPGM) deficiency, is an extremely rare inherited red blood cell enzyme disorder. The enzyme bisphosphoglycerate mutase is responsible for producing 2,3-diphosphoglycerate (2,3-DPG), a critical molecule within red blood cells that regulates the release of oxygen from hemoglobin to body tissues. When this enzyme is deficient, levels of 2,3-DPG in red blood cells are markedly reduced, causing hemoglobin to bind oxygen more tightly and release it less readily to tissues. Paradoxically, despite the impaired oxygen delivery, affected individuals typically exhibit erythrocytosis (polycythemia) rather than classical hemolytic anemia, as the body compensates by producing more red blood cells. However, the condition is classified under hemolytic anemias of the glycolytic pathway. Clinical manifestations are generally mild, and many patients may be relatively asymptomatic. Some individuals may experience symptoms related to altered oxygen delivery. The hematological system is primarily affected, with the key biochemical hallmark being decreased 2,3-DPG levels and increased oxygen affinity of hemoglobin. Treatment is largely supportive and symptomatic. Most patients do not require specific therapy, as the compensatory erythrocytosis generally maintains adequate tissue oxygenation. Phlebotomy may occasionally be considered if polycythemia becomes significant. Genetic counseling is recommended for affected families. The condition is caused by pathogenic variants in the BPGM gene located on chromosome 7q33.

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