Hereditary Spherocytosis
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Hereditary spherocytosis (HS) is a genetic abnormality of red blood cells that results in spherical shaped cells. It causes symptoms like jaundice, respiratory distress, fatigue, gallstones, and enlarged spleen. HS has a rarity of 1 in 5,000 births and can be passed on to future generations. Treatment options include splenectomy or partial splenectomy to surgically remove the spleen.
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Hereditary Spherocytosis
- 1. Hereditary Spherocytosis (HS) Abdul Jaleel Yusif Muhammed Emre Sevük Mustafa Salih Oğuz
- 2. Hereditary Spherocytosis (HS) 1. What is it? 2. Symptoms 3. Rarity 4. Genotype 5. Treatment
- 3. What is HS? Genetic abnormality of red blood cells.
- 4. What is HS?
- 11. Symptoms Anemia
- 13. Rarity 1 in 5000 Births
- 14. 50% Chance of passing on the next generation
- 15. 25% Mild HS 70% Moderate HS 5% Severe HS
- 16. Genotype Autosomal Dominant OR Autosomal Recessive
- 17. Proteins Spectrin (alpha and beta) *Ankyrin Band 3 protein Protein 4.2 ...
- 19. Protein functional change Decreased Surface Area Membrane loss Formation of spherocytes
- 20. Genes
- 21. Treatment Splenectomy Partial Splenectomy *Surgical Removal of the Gallbladder
Editor's Notes
- Genotype -> Fenotype -> Symptoms, Statistics -> Frequence, history of disease
- Acute cases can be seen particularly in newborns. Most cases can be detected soon after birth. An adult with this disease should have their children tested, although the presence of the disease in children is usually noticed soon after birth. 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.
- Red blood cells becomes spherical
- Ok, now I’m gonna talk about symptoms of HS. There are various symptoms according to Severity level of the disease. Ikterus. It is a yellow pigmentation of skin and white of the eye. It is commonly seen in babies. If not treated, it may be fatal.
- Having hard time breathing
- Safra taşı.
- Dalak büyümesi.
- containing little color pigments on skin.
- Anemia may seen in patients. It happens when there are not enough healthy red blood cells or hemoglobin. Actually anemia may be the reason behind some of the mentioned symptoms like pale skin and fatigue.
- First described in 1871. Mostly seen in Caucasian people in Northern Europe, North America and also Japanese families.
- 50% Chance of passing mutation on the next generation
- The clinical severity of HS changes in population. Mild: No anemia, Little splenomegaly or icterus. Moderate: Moderate anemia, splenomegaly mild to moderate. Severe: marked anemia, Marked splenomegaly, Gall bladder stones.
- These proteins are necessary to maintain the normal shape of a red blood cell, which is a biconcave disk. The integrating protein that is most commonly defective is ankyrin which is responsible for incorporation and binding of spectrin, thus in its dysfunction cytoskeletal instabilities occur.
- Caused as a result of defects of proteins Shape changes from biconcave to something else
- At this point, there exists no cure for the genetic defect that causes hereditary spherocytosis. Therefore the defect is still incurable at the moment but doctors and scientists are working together to find a cure for this horrendous genetic defect.[11] Current management focuses on interventions that limit the severity of the disease. Treatment options include: Splenectomy: As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia indicate treatment with blood transfusions or exchanges and chronic symptoms of anemia and an enlarged spleen indicate dietary supplementation of folic acid and splenectomy,[17] the surgical removal of the spleen. Splenectomy is indicated for moderate to severe cases, but not mild cases.[2] To decrease the risk of sepsis, post-splenectomy spherocytosis patients require immunization against the influenza virus, encapsulated bacteria such as Streptococcus pneumoniae and meningococcus, and prophylactic antibiotic treatment. However, the use of prophylactic antibiotics, such as penicillin, remains controversial.[11] Partial splenectomy: Since the spleen is important for protecting against encapsulated organisms, sepsis caused by encapsulated organisms is a possible complication of splenectomy.[2] The option of partial splenectomy may be considered in the interest of preserving immune function. Research on outcomes is currently limited,[2] but favorable.[18] Surgical removal of the gallbladder may be necessary.[11]