Lesson on Hereditary Spherocytosis (Minkowski-Chauffard Syndrome): Introduction, Pathophysiology, Signs and Symptoms, Diagnosis and Treatment. Hereditary spherocytosis is an inherited hemolytic anemia, more common in Northern European populations, that is due to a mutation in a red blood cell membrane protein, such as Ankyrin. The mutation in membrane protein ankyrin leads to formation of spherocytes, red blood cells that lack central pallor, are smaller than typical red blood cells and have decreased surface area and decreased ability to deform. The decreased ability to deform leads to early removal and destruction of the red blood cells in the spleen of these patients, leading to increases in spleen size (splenomegaly), anemia, reticulocytosis and other symptoms.

Hey everyone! This is a lesson the blood disorder known as hereditary spherocytosis (aka Minkowski-Chauffard syndrome). In this lesson you will learn about the epidemiology of hereditary spherocytosis, the pathophysiology and function of ankyrin protein, signs and symptoms of this disease, tests to help diagnose the disease and treatments.

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JJ

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**MEDICAL DISCLAIMER**: JJ Medicine does not provide medical advice, and the information available on this channel does not offer a diagnosis or advice regarding treatment. Information presented in these lessons is for educational purposes ONLY, and information presented here is not to be used as an alternative to a healthcare professional’s diagnosis and treatment of any person/animal.

Only a physician or other licensed healthcare professional are able to determine the requirement for medical assistance to be given to a patient. Please seek the advice of your physician or other licensed healthcare provider if you have any questions regarding a medical condition.

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