In simple words: Blackfan-Diamond anemia is a rare, inherited blood disorder where the bone marrow doesn't make enough red blood cells. It usually appears in babies and can cause paleness, tiredness, and other health problems.Sometimes, there are also physical differences, like thumb deformities.It's important to get treatment for this condition.

A rare congenital hypoplastic anemia characterized by inadequate red blood cell production in the bone marrow.It often presents in infancy with moderate to severe macrocytic anemia, sometimes accompanied by neutropenia or thrombocytopenia. Physical abnormalities, such as thumb deformities, can also be present. This condition carries an increased risk of leukemia and sarcoma.

Example 1: A 6-month-old infant presents with pallor, fatigue, and poor feeding. Blood tests reveal macrocytic anemia, and a bone marrow biopsy shows erythroid hypoplasia, leading to a diagnosis of D61.01., A newborn is found to have a deformed thumb and several other congenital anomalies. Subsequent blood work reveals anemia, and further investigations confirm a diagnosis of constitutional pure red cell aplasia., A child with a long-standing history of blood transfusions for anemia is referred to a hematologist. After extensive testing, including genetic analysis, the child is diagnosed with Blackfan-Diamond anemia (D61.01).

Documentation should include complete blood count (CBC) results, bone marrow biopsy findings, genetic testing results (if performed), physical examination findings (including any congenital anomalies), and details of treatment provided (e.g., blood transfusions, medications).