Version May 2024
| Finding | Possible etiology |
| Skin | |
| Hyperpigmentation | Fanconi anemia |
| Petechiae, purpura | Autoimmune hemolytic anemia with thrombocytopenia, hemolytic-uremic syndrome, bone marrow aplasia, bone marrow infiltration |
| Carotenemia | Suspect iron deficiency in infants |
| Jaundice | Hemolytic anemia, hepatitis, and aplastic anemia |
| Cavernous hemangioma | Microangiopathic hemolytic anemia |
| Ulcers on lower extremities | Sickle cell disease (S and C hemoglobinopathies), thalassemia |
| Facies | |
| Frontal bossing, prominence of the malar and maxillary bones | Congenital hemolytic anemias, thalassemia major, severe iron deficiency |
| Eyes | |
| Microcornea | Fanconi anemia |
| Tortuosity of the conjunctival and retinal vessels | Sickle cell disease (S and C hemoglobinopathies) |
| Microaneurysms of retinal vessels | Sickle cell disease (S and C hemoglobinopathies) |
| Cataracts | Glucose-6-phosphate dehydrogenase deficiency, galactosemia with hemolytic anemia in newborn period |
| Vitreous hemorrhages | S hemoglobinopathy |
| Retinal hemorrhages | Chronic, severe anemia |
| Edema of the eyelids | Infectious mononucleosis, exudative enteropathy with iron deficiency, renal failure |
| Blindness | Osteopetrosis |
| Mouth | |
| Glossitis | Vitamin B12 deficiency, iron deficiency |
| Angular stomatitis | |
| Chest | |
| Unilateral absence of the pectoral muscles | Poland syndrome (increased incidence of leukemia) |
| Shield chest | Diamond-Blackfan syndrome |
| Hands | |
| Triphalangeal thumbs | Red cell aplasia |
| Hypoplasia of the thenar eminence | Fanconi anemia |
| Spoon nails | Iron deficiency |
| Spleen | |
| Enlargement | Congenital hemolytic anemia, leukemia, lymphoma acute infection, portal hypertension |
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