Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
ORPHA:251380DiseaseAutosomal recessiveAll ages
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HBB | hemoglobin subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 141900 |
| BCL11A | BCL11 transcription factor A | Candidate gene tested in | gene with protein product | 606557 |
| HBG1 | hemoglobin subunit gamma 1 | Disease-causing germline mutation(s) in | gene with protein product | 142200 |
| HBG2 | hemoglobin subunit gamma 2 | Disease-causing germline mutation(s) in | gene with protein product | 142250 |
| KLF1 | KLF transcription factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 600599 |
Фенотипы (HPO)13
Облигатный (100%)1
HP:0011904Persistence of hemoglobin F
Частый (30–79%)1
HP:0045047HbS hemoglobin
Периодический (5–29%)11
HP:0000488Retinopathy
HP:0001744Splenomegaly
HP:0001746Asplenia
HP:0001923Reticulocytosis
HP:0002027Abdominal pain
HP:0002113Pulmonary infiltrates
HP:0002829Arthralgia
HP:0004840Hypochromic microcytic anemia
HP:0008346Increased red cell sickling tendency
HP:0032169Severe infection
HP:0034336Splenic infarction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10.6 | 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)