What does spherocytosis, hereditary mean?
Definitions for spherocytosis, hereditary
sphe·ro·cy·to·sis, hered·i·ta·ry
This dictionary definitions page includes all the possible meanings, example usage and translations of the word spherocytosis, hereditary.
Wikipedia
spherocytosis, hereditary
Hereditary spherocytosis (HS) is a congenital hemolytic disorder, wherein a genetic mutation coding for a structural membrane protein phenotype leads to a spherical shaping of erythrocytic cellular morphology. As erythrocytes are sphere-shaped (spherocytosis), rather than the normal biconcave disk-shaped, their morphology interferes with these cells' abilities to be flexible during circulation throughout the entirety of the body - arteries, arterioles, capillaries, venules, veins, and organs. This difference in shape also makes the red blood cells more prone to rupture under osmotic and/or mechanical stress. Cells with these dysfunctional proteins are degraded in the spleen, which leads to a shortage of erythrocytes resulting in hemolytic anemia. HS was first described in 1871, and is the most common cause of inherited hemolysis in populations of northern European descent, with an incidence of 1 in 5000 births. The clinical severity of HS varies from mild (symptom-free carrier), to moderate (anemic, jaundiced, and with splenomegaly), to severe (hemolytic crisis, in-utero hydrops fetalis), because HS is caused by genetic mutations in a multitude of structural membrane proteins and exhibits incomplete penetrance in its expression.Early symptoms include anemia, jaundice, splenomegaly, and fatigue. Acute cases can threaten to cause hypoxia secondary to anemia and acute kernicterus through high blood levels of bilirubin, particularly in newborns. Most cases can be detected soon after birth. Testing for HS is available for the children of affected adults. Occasionally, the disease will go unnoticed until the child is about 4 or 5 years of age. A person may also be a carrier of the disease and show no signs or symptoms of the disease. Late complications may result in the development of pigmented gallstones, which is secondary to the detritus of the broken-down blood cells (unconjugated or indirect bilirubin) accumulating within the gallbladder. Also, patients who are heterozygous for a hemochromatosis gene may exhibit iron overload, despite the hemochromatosis genes being recessive. In chronic patients, an infection or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms, a hemolytic crisis. On a blood smear, Howell-Jolly bodies may be seen within red blood cells. Primary treatment for patients with symptomatic HS has been total splenectomy, which eliminates the hemolytic process, allowing normal hemoglobin, reticulocyte and bilirubin levels. The resultant asplenic patient is susceptible to encapsulated bacterial infection, and prevented with vaccination. If other symptoms, such as abdominal pain persist, the removal of the gallbladder may be warranted for symptomatic cholelithiasis.
U.S. National Library of Medicine
Spherocytosis, Hereditary
A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Numerology
Chaldean Numerology
The numerical value of spherocytosis, hereditary in Chaldean Numerology is: 1
Pythagorean Numerology
The numerical value of spherocytosis, hereditary in Pythagorean Numerology is: 7
Translation
Find a translation for the spherocytosis, hereditary definition in other languages:
Select another language:
- - Select -
- 简体中文 (Chinese - Simplified)
- 繁體中文 (Chinese - Traditional)
- Español (Spanish)
- Esperanto (Esperanto)
- 日本語 (Japanese)
- Português (Portuguese)
- Deutsch (German)
- العربية (Arabic)
- Français (French)
- Русский (Russian)
- ಕನ್ನಡ (Kannada)
- 한국어 (Korean)
- עברית (Hebrew)
- Gaeilge (Irish)
- Українська (Ukrainian)
- اردو (Urdu)
- Magyar (Hungarian)
- मानक हिन्दी (Hindi)
- Indonesia (Indonesian)
- Italiano (Italian)
- தமிழ் (Tamil)
- Türkçe (Turkish)
- తెలుగు (Telugu)
- ภาษาไทย (Thai)
- Tiếng Việt (Vietnamese)
- Čeština (Czech)
- Polski (Polish)
- Bahasa Indonesia (Indonesian)
- Românește (Romanian)
- Nederlands (Dutch)
- Ελληνικά (Greek)
- Latinum (Latin)
- Svenska (Swedish)
- Dansk (Danish)
- Suomi (Finnish)
- فارسی (Persian)
- ייִדיש (Yiddish)
- հայերեն (Armenian)
- Norsk (Norwegian)
- English (English)
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Citation
Use the citation below to add this definition to your bibliography:
Style:MLAChicagoAPA
"spherocytosis, hereditary." Definitions.net. STANDS4 LLC, 2024. Web. 5 Jun 2024. <https://www.definitions.net/definition/spherocytosis%2C+hereditary>.
Discuss these spherocytosis, hereditary definitions with the community:
Report Comment
We're doing our best to make sure our content is useful, accurate and safe.
If by any chance you spot an inappropriate comment while navigating through our website please use this form to let us know, and we'll take care of it shortly.
Attachment
You need to be logged in to favorite.
Log In