hereditary spherocytosis

... ano ba itong hereditary spherocytosis na ito?? bket ko ba sya pinopost??? simple lng... may hereditary spherocytosis ang baby ko....

... i just got the results of her blood test kahapon... kailangan daw extra careful kay reese... iwasang magksakit sya or magkaron ng infection pra hndi daw pumutok ang red blood cell na medyo abnormal... very rare daw yng sakit na ito at hndi nagagamot... hmmm.... may article akong nkuha sa net about this disease... basa na.... dko maintindihan ng lubusan e... hehehe...

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is an inherited disease that causes anemia. If your child has hereditary spherocytosis, either parent may also have the disease. Occasionally, neither parent of an affected child has the disease; this is considered a spontaneous mutation. In the United States, approximately 1 in 5,000 people have hereditary spherocytosis.

Hereditary spherocytosis is a disease that results in the formation of abnormal red blood cells with fragile cell walls. Red blood cells circulate in the blood and contain hemoglobin, which carries oxygen to all parts of the body. Normal red blood cells are shaped like a disc. Spherocytes are round and fragile and do not change shape to pass through certain organs as easily as normal red blood cells. Because spherocytes cannot change their shape easily, they stay in the spleen longer than normal red blood cells, and the membrane surrounding the cell becomes damaged. After circulating through the spleen many times, the cell eventually becomes so damaged that it is destroyed by the spleen.

What are the signs and symptoms of hereditary spherocytosis?

Symptoms of hereditary spherocytosis vary depending on the severity of the disease. Many people with hereditary spherocytosis have a normal hemoglobin level. Most patients have only a mild anemia. These patients compensate by making more red blood cells, which is measured by the reticulocyte (immature red blood cell) count. However, infection, fever and stress can stimulate the spleen to destroy more red blood cells than usual. If this occurs, your child's hemoglobin level will drop and the bilirubin level may increase, causing the skin and whites of the eyes to be yellow.

Blood cells are produced in the bone marrow. Sometimes an infection (specifically, parvovirus) can cause the bone marrow to stop cell production temporarily. If this occurs, your child's hemoglobin will decrease, and there will be very few reticulocytes in the blood. This is called an aplastic crisis. It may take several days before red blood cell production will resume. Occasionally, anemia may be severe enough to require a red blood cell transfusion.

What is the “osmotic fragility” test?

The osmotic fragility test is done to confirm the diagnosis of hereditary spherocytosis. A patient's red blood cells are placed in different concentrations of saline solution for 24 hours. When red blood cells are placed in saline solution, they absorb water until the cell membrane bursts. Spherocytes do not tolerate weak saline solutions, causing them to burst sooner than normal cells.

Treating hereditary spherocytosis

Splenectomy (surgical removal of the spleen) is the treatment of choice for symptomatic hereditary spherocytosis and can be done when a child is five years of age or older. Treatment before the age of five consists of daily folic acid (vitamin) supplementation.

Removing the spleen does not cure the disease, but it does allow the red blood cells to live longer so that a child no longer becomes anemic during periods of stress or infection and the skin and eyes do not turn yellow. After the spleen is removed, the child is at an increased risk for certain types of infection. For this reason, penicillin is given twice a day for the rest of your child's life. It is very important that your child receive all of the normal childhood immunizations and a few special immunizations (pneumococcal and meningococcal immunizations) to prevent infection.