Гемоглобінова водянка плода Барта
ORPHA:163596· ICD-10 D56.0· Hemoglobin Bart's fetalis syndrome
Визначення(English summary)
A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal