What is Hereditary Stomatocytosis
Hereditary Stomatocytosis an Inherited condition that affects red blood cells causing them to leak sodium and potassium ions.
Background
The main function of the red blood cell is to carry oxygen around the body. Osmosis, the process where the cell would swell and burst takes place inside the cell. "The cell counters this tendency by manipulating the flow of the salt atoms, sodium and potassium. The cell has a 'pump', which forces sodium out of the cell and potassium in, and in normal cells the action of this pump is balanced by a process called 'the passive leak'." (Gordan Stewart, The Hereditary Stomatocytosis Web Page, 30 November, 2003.) In Hereditary Stomatocytosis, the leak increases so much that the cell cannot hold all the salt and water, so it bursts and creates the cells to have different shapes.
Symptoms
1. Abnormal red blood cell shape
2. Hemolytic Anemia
3. Clotting problems
4. Abdominal pain
5. Enlarged spleen
2. Hemolytic Anemia
3. Clotting problems
4. Abdominal pain
5. Enlarged spleen
Variations of hereditary stomatocytosis
1. Overhydrated hereditary stomatocytosis. (This is the most severe form of the disease with the sodium and potassium levels very abnormal, while other issues such as protein abnormalities are also present.
2. Dehydrated HSt (hereditary xerocytosis; hereditary hyperphosphatidylcholine haemolytic anemia). (This condition does not have as severe potassium and sodium levels, while the protein is found in the cell. This is more common.)
3. Dehydrated with perinatal ascites. Research shows that this form of hereditary stomatocytosis is normally resolved shortly after the baby is born.
4. Cryohydrocytosis. (This form of Hereditary Stomatocytosis is very rate. In this case, the cells are greatly influenced by temperature.)
5. Blackburn' variant. (This is similar to Cryohydrocytosis; however, the cells do not react as greatly when exposed to colder temperatures.)
6. Familial pseudohyperkalaemia. This form if Hereditary Stomatocytosis is very rare and quite mild.
7. They continue to investigate other forms of this disease.
2. Dehydrated HSt (hereditary xerocytosis; hereditary hyperphosphatidylcholine haemolytic anemia). (This condition does not have as severe potassium and sodium levels, while the protein is found in the cell. This is more common.)
3. Dehydrated with perinatal ascites. Research shows that this form of hereditary stomatocytosis is normally resolved shortly after the baby is born.
4. Cryohydrocytosis. (This form of Hereditary Stomatocytosis is very rate. In this case, the cells are greatly influenced by temperature.)
5. Blackburn' variant. (This is similar to Cryohydrocytosis; however, the cells do not react as greatly when exposed to colder temperatures.)
6. Familial pseudohyperkalaemia. This form if Hereditary Stomatocytosis is very rare and quite mild.
7. They continue to investigate other forms of this disease.
Diagnosis
One diagnosis is a blood test called Hemoglobin. This laboratory test is used to see if a person has anything wrong with their red blood cells. It performs a complete blood count (CBC) and is able to see if a person has any blood disorders or if a person is in need of a blood transfusion. This test tells a physician if there is a problem with the number of red blood cells or if there is a problem with the amount of time they remain viable. This is not the only form of diagnosis, as it only tells the physician if there is a disorder.
Another way to diagnose the disease in a lab test called pseudohyperkalaemia. This is used to determine the amount of potassium in the patients plasma. Patient's usually present for this if they have haemolysis, which is a breakdown in red blood cells.
A third way to help diagnosis Hereditary Stomatocytosis is thrombosis after splenectomy. This is the formation of a blood clot in the blood vessel, which stops or slows the flow of blood after the removal of a spleen, which filters red blood cells.
The last way to diagnosis Hereditary Stomatocytosis is perinatal ascites, which is a large build up of fluid in the abdominal cavity.
Another way to diagnose the disease in a lab test called pseudohyperkalaemia. This is used to determine the amount of potassium in the patients plasma. Patient's usually present for this if they have haemolysis, which is a breakdown in red blood cells.
A third way to help diagnosis Hereditary Stomatocytosis is thrombosis after splenectomy. This is the formation of a blood clot in the blood vessel, which stops or slows the flow of blood after the removal of a spleen, which filters red blood cells.
The last way to diagnosis Hereditary Stomatocytosis is perinatal ascites, which is a large build up of fluid in the abdominal cavity.
causes
The main cause of Hereditary Stomatocytosis is still not understood, but there has been research done to believe that on chromosome 16, there is change, causing a malfunction. Another cause is that there is a missing protein called stomatin from the membrane.
Treatment
There is no specific treatment for Hereditary Stomatocytosis, but some patients who have the disorder take folic acids, a water-soluble vitamin, because most of these cells use this vitamin. A blood transfusion may be needed if a serious problem occurs. If a blood clotting problem arises, anticoagulation or a substance that stops blood clots may be required. A iron overload treatment might also be needed.
Prognosis
Some clinical problems in Hereditary Stomatocytosis are mild enough to let the patient live a normal life. Although Gallstones can be a problem, that can be easily fixed with a surgery. A patient who has Hemolytic anemia may face a problem where they encounter a temporary anemic period when there is an infection. If this occurs a transfusion may be needed for a little while. If a person with Hereditary Stomatocytosis removes their spleen, they need to make sure that they do not show issues later in life. These issues are blood clots, abdominal pain, chest pain, breathing with difficulty or blood clotting in the superficial veins. If this occurs the patient needs to have Anticoagultant treatment. Anticoagulatant is a blood thinner that makes you bleed easily.
works cited
"Hemoglobin." Lab Tests Online. October 20, 2012 <http://labtestsonline.org/understanding/analytes/hemoglobin/tab/test>.
"Hereditary Stomatocytosis." Online Image. Photobucket. No date. October 20, 2012 <http://media.photobucket.com/image/hereditary%20stomatocytosis/goldimama/Pics%2520for%2520notecards/stomatocytes.jpg>.
"Hereditary Stomatocytosis." Hereditary stomatocytosis. Wikipedia. October 20, 2012 <http://en.wikipedia.org/wiki/Hereditary_stomatocytosis>.
"The Hereditary Stomatocytosis Web Page." October 20, 2012 <http://www.ucl.ac.uk/~rmhagst/stomatocytosis.htm#Diagnosis>.
Online Image. Spectrin Skeleton. No date. October 20, 2012 <http://ars.els-cdn.com/content/image/1-s2.0-S1079979609000424-gr2.jpg>.
" Overhydrated hereditary stomatocytosis." Online Image. USCN. No date. October 20, 2012 <http://www.uscnk.com/img/Stomatin-(STOM)-92876.jpg>.
"Science Overview." Wadsworth Center. October 20, 2012 <http://www.wadsworth.org/docs/science_overview.shtml>.
"Spleen." Wikipedia. October 20, 2012 <http://en.wikipedia.org/wiki/Spleen>.
"Symptoms of Overhydrated hereditary stomatocytosis." 2011. October 20, 2012 <http://www.rightdiagnosis.com/o/overhydrated_hereditary_stomatocytosis/symptoms.htm>.
"Hereditary Stomatocytosis." Online Image. Photobucket. No date. October 20, 2012 <http://media.photobucket.com/image/hereditary%20stomatocytosis/goldimama/Pics%2520for%2520notecards/stomatocytes.jpg>.
"Hereditary Stomatocytosis." Hereditary stomatocytosis. Wikipedia. October 20, 2012 <http://en.wikipedia.org/wiki/Hereditary_stomatocytosis>.
"The Hereditary Stomatocytosis Web Page." October 20, 2012 <http://www.ucl.ac.uk/~rmhagst/stomatocytosis.htm#Diagnosis>.
Online Image. Spectrin Skeleton. No date. October 20, 2012 <http://ars.els-cdn.com/content/image/1-s2.0-S1079979609000424-gr2.jpg>.
" Overhydrated hereditary stomatocytosis." Online Image. USCN. No date. October 20, 2012 <http://www.uscnk.com/img/Stomatin-(STOM)-92876.jpg>.
"Science Overview." Wadsworth Center. October 20, 2012 <http://www.wadsworth.org/docs/science_overview.shtml>.
"Spleen." Wikipedia. October 20, 2012 <http://en.wikipedia.org/wiki/Spleen>.
"Symptoms of Overhydrated hereditary stomatocytosis." 2011. October 20, 2012 <http://www.rightdiagnosis.com/o/overhydrated_hereditary_stomatocytosis/symptoms.htm>.