Diamond-Blackfan anemia What every physician needs to know: Diamond-Blackfan anemia (DBA) is a severe red cell (erythroid) aplasia that usually presents soon after birth. Congenital abnormalities of the head and neck (hypertelorism, cleft or high arched palate, microcephaly, micrognathia), thumb and other organs such as kidneys and or heart may be present. Importantly, DBA usually…
Congenital anemia (Diamond Blackfan anemia, congenital dyserythropoietic anemia, etcetera) What every physician needs to know about congenital anemia: Congenital anemia is present at birth or during the first few weeks of life. Cord blood hemoglobin (Hb) at birth in full term infants is 16-17g/dL, does not decrease appreciably during the first week of life, and…
Bone marrow failure in children What every physician needs to know about bone marrow failure in children: Bone marrow failure (BMF) in children is usually acquired, but inherited causes of pancytopenia (hemoglobin [Hb] less than 10g/dL, platelets less than 50K/uL, absolute neutrophil count [ANC] less than 1500/uL), such as Fanconi anemia (FA), dyskeratosis congenita (DC),…
