Fanconi anemia in infancy: report of hematopoietic stem cell transplantation to a 13-month-old patient

Excerpt

The most important clinical features of Fanconi anemia (FA) are hematologic disorders and these are responsible for high incidence of morbidity and mortality. During birth, the blood count is usually normal and macrocytosis is often the first detected abnormality. This is typically followed by thrombocytopenia and anemia; then, progresses to pancytopenia. The majority of patients develop progressive bone marrow failure or acute myelogenous leukemia, both of which are diagnosed with peak frequencies at the age of 7 and 10–15 years, respectively [1, 2]. The disease has generally been managed by the administration of blood products, treatment of infections, and prolonged administration of androgens and hematopoietic growth factors. However, the only curative treatment for the bone marrow failure is hematopoietic stem cell transplantation (HSCT). We describe a patient demonstrating pancytopenia from birth, who received HSCT at the age of 13 months. …