SNP Shot: Genomic Insights

Pyruvate kinase deficiency is a genetic condition that impacts red blood cells, the cells responsible for transporting oxygen throughout the body. This deficiency leads to chronic hemolytic anemia, a condition where red blood cells are prematurely destroyed (hemolysis), causing a shortage of these cells (anemia). It's a frequent cause of a specific type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In this particular type, the red blood cells do not become spherical, unlike some other hemolytic anemias.

Chronic hemolytic anemia can manifest as pale skin (pallor), yellowing of the skin and eyes (jaundice), severe tiredness (fatigue), difficulty breathing (dyspnea), and a fast heartbeat (tachycardia). Other common features include an enlarged spleen (splenomegaly), high iron levels in the blood, and the formation of gallstones in the gallbladder or bile ducts.

The severity of hemolytic anemia and its related problems varies greatly in individuals with pyruvate kinase deficiency. Some may experience minimal or no symptoms, while others can have life-threatening complications, especially during infancy, requiring regular blood transfusions for survival. Infections or pregnancy can worsen the symptoms.

Inheritance:

Pyruvate kinase deficiency follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, each carrying only one copy of the mutated gene, are usually asymptomatic carriers.