Fanconi's Anemia and Congenital Aplastic Anemia

Fanconi’s Anemia

• A congenital disorder of hematopoietic stem cells that results in aplasia of all cell lines (WBCS, RBCS, & PLTS)
• Diagnosed equally in boys and girls and can be found in all ethnic groups
• Characterized by defective DNA repair and numerous chromosomal abnormalities
• Increased levels of Hemoglobin F
• Bone marrow may display a macrocytic process with thrombocytopenia and leukopenia, developing before red cell depletion
• Physical characteristics: Short statue, abnormal thumb, skin abnormalities, "Café au lait" spots, abnormal eye alignment
• Molecular and Cygenetic level: Increased chromosomal breakage and defective DNA repair

Congenital Aplastic Anemia

• Hematologic abnormalities present since birth
• Pancytopenia that progresses with age, usually symptomatic within 5-10 years after birth
• Anemia (normochromic and normocytic; may be macrocytic) and thrombocytopenia usually precedes leukopenia
• Increased expression of antigen on red cells, increased fetal hemoglobin (HbF) levels, and elevated erythropoietin levels (EPO)
• Bone marrow may be originally normocellular or hypercellular, but over time hypoplasia develops

Aplastic Anemia

• Bone marrow is unable to respond to developing peripheral blood cytopenias by increased hematopoiesis, classified as refractory or regenerative
• Divided into Acquired (more common) or Congenital (hereditary)
• Acquired aplastic anemia is secondary, resulting from exposure to chemicals, drugs, irradiation, or infection
• Hereditary aplastic anemia is rare, with the most common group designated as Fanconi's Anemia

Fanconi's Anemia (FA)

• Named for Swiss pediatrician Dr. Guido Fanconi
• Rare autosomal recessive disorder affecting physical characteristics and bone marrow development; rare inherited pancytopenia
• Defects in one of at least 15 different genes can cause FA
• Shows both dominant and recessive inheritance patterns
• Congenital hypoplastic disorder usually diagnosed in early infancy
• Several physical abnormalities observed: Short stature, low birth weight, head and facial abnormalities
• Bone marrow usually lacking in red cell precursors (ONLY) with a slightly decreased number of leukocytes
• Increased Hemoglobin F; Average patient hemoglobin is 70 g/L
• Treatment includes steroids and transfusional support with careful attention to the possibility of hemosiderosis

Diamond-Blackfan Anemia

• Chronic, moderate to severe anemia that usually manifests early in infancy
• Associated with normal numbers of white cells and platelets
• Decreased reticulocyte count
• Bone marrow examination shows a normocellular bone marrow with erythroid hypoplasia; Usually normal or increased numbers of proerythroblasts with decreased mature stages in erythroid cells
• Minor congenital abnormalities of the head and upper limbs may be present, similar to Fanconi's anemia
• Unclear mode of inheritance; Both recessive and dominant inheritance patterns have been described
• Most patients respond to steroids and are able to maintain adequate hemoglobin levels
• Some patients may become transfusion dependent and develop possible iron overload from long-term transfusion therapy
• Bone marrow transplantation is curative
• Increased incidence of Acute Myelogenous Leukemia (AML) late in the course of the disease

Explore the conditions of Fanconi's Anemia and Congenital Aplastic Anemia in this informative quiz. Learn about their characteristics, symptoms, and molecular aspects. Test your knowledge of these hematologic disorders and their impact on health.