Hereditary spherocytosis



Hereditary spherocytosis


Genetic disorders


Alagille syndrome (NORD)

Familial adenomatous polyposis

Familial hypercholesterolemia

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Marfan syndrome

Multiple endocrine neoplasia

Myotonic dystrophy


Polycystic kidney disease

Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease




Cystic fibrosis

Friedreich ataxia

Gaucher disease (NORD)

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V


Krabbe disease


Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Niemann-Pick disease type C

Niemann-Pick disease types A and B (NORD)

Phenylketonuria (NORD)

Polycystic kidney disease

Primary ciliary dyskinesia

Sickle cell disease (NORD)

Tay-Sachs disease (NORD)

Wilson disease

Cri du chat syndrome

Williams syndrome

Angelman syndrome

Prader-Willi syndrome

Beckwith-Wiedemann syndrome

Mitochondrial myopathy

Klinefelter syndrome

Turner syndrome

Fragile X syndrome

Friedreich ataxia

Huntington disease

Myotonic dystrophy

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Alport syndrome

Fragile X syndrome

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency


Lesch-Nyhan syndrome

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

X-linked agammaglobulinemia

Autosomal trisomies: Pathology review

Miscellaneous genetic disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review


Hereditary spherocytosis


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USMLE® Step 1 questions

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High Yield Notes

13 pages


Hereditary spherocytosis

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USMLE® Step 1 style questions USMLE

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A 6-year-old girl is brought to the clinic by her parent due to repeated episodes of jaundice, pallor, and fatigue for the last 8 months and new-onset abdominal pain for the last 3 days. She is at the 35th percentile for height and 20th percentile for weight. The parent reports no pregnancy or birth-related complications and states that the patient had been relatively healthy previously. The parent states that the girl’s biological father had been hospitalized with similar symptoms as a child and had abdominal surgery, but the details of the surgery are unknown. The patient’s temperature is 37°C (98.9°F), pulse is 90/min, respirations are 24/min, and blood pressure is 118/72 mmHg. Physical examination shows an ill-appearing pale child with scleral icterus and splenomegaly. Laboratory tests are obtained and the results are shown below.

The patient most likely has a defect in which of the following?

External References

First Aid








Aplastic crisis

hereditary spherocytosis p. 417

Erythrocytes p. 415

hereditary spherocytosis p. 417

Hereditary spherocytosis p. 417

in anemia taxonomy p. 425

spherocytes in p. 423

Parvovirus B16

hereditary spherocytosis p. 417


hereditary spherocytosis p. 417


Hereditary spherocytosis (HS) is an autosomal dominant genetic disorder in which red blood cells are sphere-shaped instead of having the normal biconcave shape. These abnormal red blood cells break down prematurely, which can lead to anemia. Also, because of their abnormal shape, red blood cells in spherocytosis don't move through small blood cells efficiently as normal ones do, which can affect tissue oxygenation. People with hereditary spherocytosis can present with jaundice, splenomegaly, and features of anemia like pallor and fatigue.


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