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52 recordsSickle Cell disease · inherited hemoglobin disorders involving hemoglobin S
A group of inherited blood disorders in which hemoglobin S is present with another disease-associated HBB allele. Low-oxygen HbS can form fibers, making red blood cells rigid and contributing to anemia and blocked blood flow.
G6PD Deficiency · Glucose-6-phosphate dehydrogenase deficiency
Variants that reduce G6PD activity can leave red blood cells less able to manage oxidative stress.
Phenylketonuria (PKU) · PAH-related phenylalanine hydroxylase deficiency
Usually caused by PAH variants that impair conversion of phenylalanine to tyrosine.
Beta Thalassemia · HBB-related reduced beta-globin production
A group of inherited blood disorders in which HBB variants reduce or prevent beta-globin production, limiting functional hemoglobin and healthy red blood cells.
Pyruvate Kinase deficiency · PKLR-related red-cell glycolytic disorder
Inherited PKLR variants can reduce red-cell pyruvate kinase activity and impair ATP generation in erythrocytes.
Allergy Test panel (components unspecified) · Allergy testing panel
A generic allergy test panel; the allergens and analytes it covers were not specified.
Anti-dsDNA Antibodies · Antibodies to double-stranded DNA
Autoantibodies against double-stranded DNA; testing is used to help diagnose lupus.
Anti-HBc (total) · Total antibody to hepatitis B core antigen
Total antibody to hepatitis B core antigen, indicating past or current HBV infection; vaccination does not produce it.
Anti-HBe · Antibody to hepatitis B e antigen
Antibody to hepatitis B e antigen, usually associated with reduced viral replication.
Anti-HBs · Antibody to hepatitis B surface antigen
Antibody to hepatitis B surface antigen, indicating immunity after recovery or vaccination.