Sickle cell anemia
ORPHA:232DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)37
Облигатный (100%)1
HP:0004870Chronic hemolytic anemia
Очень частый (80–99%)3
HP:0001878Hemolytic anemia
HP:0002719Recurrent infections
HP:0012531Pain
Частый (30–79%)13
HP:0000488Retinopathy
HP:0000939Osteoporosis
HP:0000952Jaundice
HP:0001743Abnormality of the spleen
HP:0001891Iron deficiency anemia
HP:0001894Thrombocytosis
HP:0001923Reticulocytosis
HP:0001974Leukocytosis
HP:0002754Osteomyelitis
HP:0010885Avascular necrosis
HP:0011981Pigment gallstones
HP:0012622Chronic kidney disease
HP:0100749Chest pain
Периодический (5–29%)17
HP:0000707Abnormality of the nervous system
HP:0001081Cholelithiasis
HP:0001406Intrahepatic cholestasis
HP:0002092Pulmonary arterial hypertension
HP:0002140Ischemic stroke
HP:0002597Abnormality of the vasculature
HP:0003259Elevated circulating creatinine concentration
HP:0008282Unconjugated hyperbilirubinemia
HP:0011886Hyphema
HP:0011904Persistence of hemoglobin F
HP:0012418Hypoxemia
HP:0025326Retinal arterial occlusion
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0031090Finger dactylitis
HP:0034336Splenic infarction
HP:0200023Priapism
HP:0200042Skin ulcer
Очень редкий (1–4%)3
HP:0001931Hypochromic anemia
HP:0001935Microcytic anemia
HP:0005518Increased mean corpuscular volume
Эпидемиология12
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 42 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25 | Germany | Value and class |
| Point prevalence | 1-5 / 10 000 | 30 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 47.5 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 41.7 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 32.8 | United States | Value and class |
| Prevalence at birth | >1 / 1000 | 344.8 | Guadeloupe | Value and class |
| Prevalence at birth | >1 / 1000 | 248.75 | Martinique | Value and class |
| Prevalence at birth | >1 / 1000 | 467.3 | Guyana | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 20.15 | Reunion | Value and class |
| Annual incidence | 1-5 / 10 000 | 21.6262 | Brazil | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)