Blood, hematopoietic organs-immune system (D50-D90).
- Elliptocytosis – group of rare defects of the erythrocyte (red blood cell) membrane skeleton with autosomal dominant or autosomal recessive inheritance; blood smear shows numerous elliptical erythrocytes (elliptocytes).
- Immune hemolysis – dissolution of erythrocytes (red blood cells) caused by immune processes.
- Microangiopathic hemolytic anemia (HUS – hemolytic uremic syndrome) – rare disease affecting mainly infants and young children.Complete enteropathic HUS is referred to in the presence of microangiopathic hemolytic anemia (anemia) and thrombocytopenia (decrease in platelets) and renal insufficiency (kidney weakness).
- Paroxysmal nocturnal hemoglobinuria (PNH) – acquired disease of the hematopoietic stem cell caused by a mutation of the phosphatidyl inositol glycan (PIG) A gene; characterized by hemolytic anemia (anemia due to red blood cell breakdown), thrombophilia (tendency to thrombosis), and pancytopenia, ie. i.e. a deficiency in all three cell series (tricytopenia) of hematopoiesis, i.e. a leukocytopenia (reduction of white blood cells), anemia and thrombocytopenia (reduction of platelets), is characterized.
- Sickle cell anemia (med.: drepanocytosis; also sickle cell anemia, sickle cell anemia) – genetic disease with autosomal recessive inheritance affecting erythrocytes (red blood cells); it belongs to the group of hemoglobinopathies (disorders of hemoglobin; formation of an irregular hemoglobin called sickle cell hemoglobin, HbS).
- Spherocytosis (spherocytosis).
- Spur-cell anemia – occurrence of anemia in chronic liver disease with presence of acanthocytes (erythrocytes/red blood cells with “Mickey Mouse ears”; pathological variant shape of erythrocytes).
Endocrine, nutritional, and metabolic diseases (E00-E90).
- Cobalamin deficiency (B12 deficiency)
- Crigler-Najar syndrome – hereditary form of hyperbilirubinemia: neonatal icterus caused by the absence of a specific enzyme (glucuronyltransferase).
- Dubin-Johnson syndrome – genetic disease with autosomal recessive inheritance, which lead to excretion disorders of bilirubin; direct hyperbilirubinemia (strong increase in bilirubin levels in the blood); typical is a mild jaundice without pruritus (jaundice without itching); macroscopic: black liver due to bilirubin pigment storage in the lysosomes (cell organelles).
- Iron deficiency
- Folate deficiency
- Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency; X-linked) or pyruvate kinase deficiency (autosomal recessive inheritance) – congenital enzyme defects of erythrocytes (red blood cells).
- Rotor syndrome – genetic disease with autosomal recessive inheritance; hyperbilirubinemia; usually no symptoms except jaundice (icterus).
Medication
- Probenecid – drug used to treat hyperuricemia or gout, which inhibits the reabsorption of uric acid.
- Ribavirin (antiviral) – active substance used in therapy against viral infections.
- Rifampicin – antibacterial agent from the group of tuberculostatics.
