Beta-thalassemia intermedia
ORPHA:231222DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)4
HP:0000939Osteoporosis
HP:0010972Anemia of inadequate production
HP:0011904Persistence of hemoglobin F
HP:0025066Decreased mean corpuscular volume
Частый (30–79%)11
HP:0000924Abnormality of the skeletal system
HP:0000952Jaundice
HP:0000980Pallor
HP:0001978Extramedullary hematopoiesis
HP:0002659Increased susceptibility to fractures
HP:0004349Reduced bone mineral density
HP:0011031Abnormality of iron homeostasis
HP:0012132Erythroid hyperplasia
HP:0045048Increased HbA2 hemoglobin
HP:0100724Hypercoagulability
HP:0200042Skin ulcer
Периодический (5–29%)13
HP:0000114Proximal tubulopathy
HP:0000938Osteopenia
HP:0001081Cholelithiasis
HP:0001392Abnormality of the liver
HP:0001410Decreased liver function
HP:0001433Hepatosplenomegaly
HP:0001626Abnormality of the cardiovascular system
HP:0001722High-output congestive heart failure
HP:0001744Splenomegaly
HP:0001974Leukocytosis
HP:0002092Pulmonary arterial hypertension
HP:0002240Hepatomegaly
HP:0012465Elevated hepatic iron concentration
Очень редкий (1–4%)8
HP:0000135Hypogonadism
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000829Hypoparathyroidism
HP:0000846Adrenal insufficiency
HP:0001394Cirrhosis
HP:0001402Hepatocellular carcinoma
HP:0002176Spinal cord compression
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)