DEAR DR. GOTT: I would like to express my opinion about your recent article on growing pains. The lady stated that her grandson would awaken crying with severe pain in his wrists, ankles, knees and hands. These could be the result of growing pains or of sickle-cell disease. I was the mother of a child with sickle cell for 30 years. I remember, as a 24-year-old parent, my 6-month-old baby waking up crying in pain. The doctors could not find anything wrong until I asked them to test him for sickle cell. They found that he was in a sickle-cell crisis. Since this is a hereditary disease found mostly in African-Americans and some Latinos, you should have asked the grandmother about her nationality. I lost my child at the age of 30. I hope this can help save the lives of children who may be affected.
DEAR READER: Sickle-cell anemia is an inherited condition that causes abnormal red blood cells (RBCs). Those with the disorder produce inadequate amounts of healthy RBCs, which are round, flexible and move easily through the vessels. They also produce RBCs that are rigid, sticky and shaped like crescent moons or sickles (hence the name). These abnormal cells do not flow easily through the body and often get stuck in small vessels, which can slow or block blood flow and oxygen to parts of the body.
In order to have a child with sickle-cell anemia, both parents need to have the abnormal gene that causes it to develop. The child must then inherit this gene from both parents. Each parent is a carrier and produces both normal and sickle-cell types of hemoglobin and may even produce some sickle cells in their own blood but do not typically develop symptoms.
Carriers of the gene have a 50 percent chance of having a child who is a carrier and a 25 percent chance of having a child who is either totally unaffected or who has sickle-cell anemia. There are several other variations of these statistics based on genetics; therefore, it is important for those who may be carriers to undergo genetic testing in order to weigh the risks to any unborn child.
The condition most commonly occurs in those of African, Spanish, Mediterranean, Middle Eastern and Indian ancestry.
Symptoms of sickle cell include anemia (low levels of RBCs and hemoglobin), jaundice (yellowing of the skin and eyes), delayed growth, frequent infection, hand-foot syndrome (swelling of the hands and feet), visual problems and episodes of pain, also known as sickle-cell crises.
Complications include gallstones, pulmonary hypertension, acute chest syndrome, stroke, organ damage, skin ulcers and priapism.
There is no certain cure, but there is a potential for one with bone-marrow transplant; however, finding a matching donor is difficult, and the procedure itself carries serious, even life-threatening, risks.
Treatment options include antibiotics for children, pain relievers during crises and hydroxyurea, a cancer-treatment drug that may be beneficial to those with severe disease. Some people also benefit from red-blood-cell transfusions and supplemental oxygen therapy. It is also important to assess and monitor stroke risk.
Several experimental treatments currently being studied may bring new hope. These include gene therapy, nitric oxide, butyric acid, Nicosan and clotrimazole.
Home care includes stress reduction, remaining hydrated, eating a balanced diet, supplemental folic acid, avoiding extreme temperatures and high altitudes and more.
The only sure way for carriers to prevent having a child with sickle-cell anemia is not to have children. There is a type of in-vitro fertilization that can prevent it; however, it is expensive and not guaranteed.
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