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Hereditary spherocytosis

Summary of Hereditary spherocytosis
Hereditary spherocytosis is an autosomal dominant abnormality of erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are taken for degradation at the spleen. This shortage of erythrocytes results in hemolytic anemia.

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Notes

Hematological system

Pathology

Anemias
Heme synthesis disorders
Coagulation disorders
Platelet disorders
Mixed platelet and coagulation disorders
Thrombosis syndromes (hypercoagulability)
Lymphomas
Leukemias
Leukemoid reaction
Dysplastic and proliferative disorders
Plasma cell dyscrasias
Hematological system pathology review

Assessments
Hereditary spherocytosis

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High Yield Notes
13 pages
Flashcards

Hereditary spherocytosis

11 flashcards
Questions

USMLE® Step 1 style questions USMLE

1 questions

USMLE® Step 2 style questions USMLE

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Preview

A 2-year-old male is brought to the office because of yellow skin for a week. His parents say that they have also noticed that he becomes breathless with minimal exertion. Medical history is non-contributory. Examination shows a palpable spleen. Complete blood count shows decreased serum hemoglobin. A peripheral blood film is obtained. Which of the following is the most likely etiology of this patients condition?

External References