Pyruvate Kinase Deficiency—Anemia

Also called: Iron poor blood

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include

• Heavy periods
• Pregnancy
• Ulcers
• Colon polyps or colon cancer
• Inherited disorders
• A diet that does not have enough iron, folic acid or vitamin B12
• Blood disorders such as sickle cell anemia and thalassemia, or cancer
• Aplastic anemia, a condition that can be inherited or acquired
• G6PD deficiency, a metabolic disorder

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

NIH: National Heart, Lung, and Blood Institute

• Anemia (Medical Encyclopedia)
• Anemia – B12 deficiency (Medical Encyclopedia)
• Anemia caused by low iron — infants and toddlers (Medical Encyclopedia)
• Anemia of chronic disease (Medical Encyclopedia)
• Anemia of Inflammation and Chronic Disease – NIH
• Febrile/cold agglutinins (Medical Encyclopedia)
• Ferritin blood test (Medical Encyclopedia)
• Hemolytic anemia (Medical Encyclopedia)
• Iron deficiency anemia (Medical Encyclopedia)
• Pernicious anemia (Medical Encyclopedia)
• Vitamin B12 level (Medical Encyclopedia)

Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body’s tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause of a type of inherited hemolytic anemia called hereditary nonspherocytic hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood cells do not assume a spherical shape as they do in some other forms of hemolytic anemia.Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) are also common in this disorder.In people with pyruvate kinase deficiency, hemolytic anemia and associated complications may range from mild to severe. Some affected individuals have few or no symptoms. Severe cases can be life-threatening in infancy, and such affected individuals may require regular blood transfusions to survive. The symptoms of this disorder may get worse during an infection or pregnancy.