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[Congenital aplastic anemia-Fanconi]
Insights
Fanconi aplastic anemia in children presents with pancytopenia and developmental delays. Genetic analysis revealed chromosomal abnormalities, indicating a need for early diagnosis and intervention in pediatric cases.
Area of Science:
- Pediatric Hematology
- Clinical Genetics
- Congenital Anomalies
Background:
- Fanconi aplastic anemia (FAA) is a rare inherited disorder.
- It is characterized by bone marrow failure and a predisposition to malignancies.
- Early identification of FAA is crucial for managing associated health risks.
Abstract:
Results of the investigation of 3 children aged from 2 to 7,5 with diagnosed aplastic anemia of Fanconi type are presented. Two children were females and one child was a male. Their illness symptoms appeared at the age of one, three and four respectively. All three patients had similar symptomes: palenes, tiredness, epistaxis, appearance of hemorrhagic syndrome and delayed growth. The following anomalies were also present: small size, microcephaly, mandibular hypoplasia, high palate and malformation of the urinary tract. In one child ductus Botalli persistens was also revealed. The laboratory findings showed presence of pancytopenia of the blood and increased level of both iron and erythropoietin in the serum. The karytype of two children revealed several cells with broken chromatin and with polyploid and tetraploid cells. The meiogram showed presence of all cells in bone marrow but in lowered number. Celularity I.