C C2869 Anemia Anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Abnormally low level of hemoglobin in the blood. C26323 Hematologic Disorder C99147 Neonatal Research Network Terminology C C3093 Hemophilia Hemophilia A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C99147 Neonatal Research Network Terminology C C26770 Hereditary Factor XII Deficiency Hereditary Factor XII Deficiency Disease A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. C98942 Hereditary Coagulation Factor Deficiency C99147 Neonatal Research Network Terminology C C84705 Hereditary Factor XI Deficiency Hereditary Factor XI Deficiency Disease A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. C3101 Genetic Disorder C3093 Hemophilia C99147 Neonatal Research Network Terminology D C99102 Glutaric Acidemia Type 2 Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly. C34816 Congenital Metabolic Disorder C99147 Neonatal Research Network Terminology