Anemias Caused by Hereditary Erythrocytic Disorders (planned by AVHTM)

While acquired anemias in companion animals are major clinical problem, important differential may be hereditary erythrocytic disorders. They include the classic erythroenzymopathies, such as pyruvate kinase and phosphofructokinase deficiency, membrane abnormalities, such as stomatocystosis, spherocytosis, and elliptocytosis, heme synthesis defects, such as porphyria and methemoglobinemia, and most recently recognized hereditary dyserythopoiesis. Most of the are inherited as an autosomal recessive trait but some are dominantly inherited.  Depending on the erythrocyte defect, they may be commonly seen in certain breeds regionally or worldwide, may present at  juvenile age but also adult animals, may be chronic and progressive but also intermittent. The hereditary anemia may be compensated and well tolerated, while others may have chronic progressive disease or develop intermittent hemolytic crises. Some of them have are associated with other dysorders and thus syndromic. These erythrocyte defects have been investigated from the clinical presentation to the molecular genetic defect. The clinical approach and management of these hereditary erythrocyte defects causing anemia in companion animals will be presented.

·      Recognize hereditary erythrocyte defects in anemic animals

·      Familiarize with the different hereditary erythrocytic defects

·      Identify specific clinical signs and laboratory test abnormalities beside anemia

·      Learn how to precisely diagnose these defects

·      Find out how to manage erythrocyte defects with good outcomes

·      Beside precision medicine consider the control of the disease in the affected family and breed