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    • Image courtesy of researchgate.net

      researchgate.net

      Defects in structural membrane proteins

      • Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people. The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. The abnormal cells are spherical.
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      Hereditary spherocytosis - Symptoms, diagnosis and treatment ...

  2. my.clevelandclinic.org › health › diseasesHereditary Spherocytosis: What It Is, Symptoms, Causes ...

    May 19, 2022 · Hereditary spherocytosis is an inherited blood disorder that causes hemolytic anemia. This anemia happens when your red blood cells break down faster than normal.

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  4. www.webmd.com › what-is-hereditary-spherocytosisHereditary Spherocytosis: Symptoms, Diagnosis, and Treatment

    Feb 14, 2024 · Hereditary spherocytosis is a genetic disorder in which the red blood cells (RBCs) are fragile and burst easily. These disc-shaped cells, which have a lifespan of 120 days, contain hemoglobin...

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  6. www.ncbi.nlm.nih.gov › books › NBK539797Hereditary Spherocytosis - StatPearls - NCBI Bookshelf

    Jul 4, 2023 · Hereditary spherocytosis (HS) is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type of congenital hemolytic anemia. Oskar Minkowsky first described it in the early 1900s. [1]

    • Edgar A. Zamora, Catherine A. Schaefer
    • 2023/07/04

  7. www.medicalnewstoday.com › articles › hereditaryHereditary spherocytosis: Symptoms, treatment, and more

    Mar 6, 2023 · Hereditary or congenital spherocytosis is an inherited condition where the red blood cells are spherical instead of the usual disk shape. It can lead to jaundice, hemolytic anemia, and an...

  8. rarediseases.org › rare-diseases › anemia-hereditaryHereditary Spherocytosis - Symptoms, Causes, Treatment | NORD

    Aug 5, 2019 · Hereditary spherocytosis (HS) is an inherited disease that affects the red blood cells. Characteristic symptoms of HS are the destruction of red blood cells in the spleen and their removal from the blood stream (hemolytic anemia), a yellow tone to the skin (jaundice), and an enlarged spleen (splenomegaly).

  9. medlineplus.gov › genetics › conditionHereditary spherocytosis: MedlinePlus Genetics

    In about 75 percent of cases, hereditary spherocytosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.

  10. patient.info › hereditary-spherocytosisHereditary Spherocytosis: Causes, Symptoms, and Treatment

    Jan 1, 2024 · Hereditary spherocytosis (HS) is an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen.

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