Alpha-thalassemia
ORPHA:846Clinical groupAutosomal recessiveAll ages
Фенотипы (HPO)23
Очень частый (80–99%)2
HP:0001935Microcytic anemia
HP:0011902Abnormal hemoglobin
Частый (30–79%)7
HP:0001433Hepatosplenomegaly
HP:0001635Congestive heart failure
HP:0001698Pericardial effusion
HP:0001923Reticulocytosis
HP:0001978Extramedullary hematopoiesis
HP:0002202Pleural effusion
HP:0007430Generalized edema
Периодический (5–29%)14
HP:0001081Cholelithiasis
HP:0001744Splenomegaly
HP:0001789Hydrops fetalis
HP:0001878Hemolytic anemia
HP:0001903Anemia
HP:0001971Hypersplenism
HP:0002863Myelodysplasia
HP:0004823Anisopoikilocytosis
HP:0005507Hemoglobin Barts
HP:0010620Malar prominence
HP:0010978Abnormality of immune system physiology
HP:0100543Cognitive impairment
HP:0430028Hyperplasia of the maxilla
HP:0000952Jaundice
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 10.3 | United States | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)