Beta-thalassemia
ORPHA:848Clinical groupAutosomal dominant, Autosomal recessiveChildhood, Infancy
Фенотипы (HPO)21
Очень частый (80–99%)6
HP:0000924Abnormality of the skeletal system
HP:0000980Pallor
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0001935Microcytic anemia
HP:0011902Abnormal hemoglobin
Частый (30–79%)9
HP:0000044Hypogonadotropic hypogonadism
HP:0000737Irritability
HP:0000929Abnormal skull morphology
HP:0001324Muscle weakness
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0004349Reduced bone mineral density
HP:0004370Abnormality of temperature regulation
HP:0011031Abnormality of iron homeostasis
Периодический (5–29%)6
HP:0001081Cholelithiasis
HP:0001639Hypertrophic cardiomyopathy
HP:0001873Thrombocytopenia
HP:0004936Venous thrombosis
HP:0012115Hepatitis
HP:0200042Skin ulcer
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | France | Value and class |
| Annual incidence | 1-5 / 10 000 | 10 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)