Does Sickle Cell Run In Your Family? | Sickle Cell Inherited - Symptoms, Diagnosis & Treatment

Описание: Does Sickle Cell Run In Your Family? | Sickle Cell Inherited - Symptoms, Diagnosis & Treatment

Sickle cell disease is most common in African Americans. The symptoms can be severe and are very often downplayed by health care providers, but why? Tune in to hear our honest opinion.

The first step in treating your child is providing an accurate and complete diagnosis. Early diagnosis of sickle cell disease is essential in providing proper preventative treatment for some of the devastating potential complications. Sickle cell disease can be identified by the following tests:

✦review of newborn screening results
✦hemoglobin electrophoresis
✦complete family history
✦additional blood tests

►►In addition, using genetic testing, we are able to identify the specific type of sickle cell disease as well as your child’s unique genetic variations.

◾️Newborn screening
Certain newborn screening tests are done within the first few days of life on every baby born in the U.S. to detect serious, life-threatening diseases. Hemoglobin electrophoresis is a newborn screening blood test that can determine if your child is a carrier of sickle cell trait or has sickle cell disease.

◾️What are the treatment options for sickle cell disease?
Most treatments are aimed at relieving symptoms or preventing complications.

►►Prevention of bacterial infections and sepsis
Most children with sickle cell disease must:

✦ take preventative dosing penicillin until at least age 5
✦ complete all routine childhood vaccinations and additional sickle cell-specific vaccinations
✦ maintain vigilance regarding fevers and signs of infection

✫✫Hydroxyurea therapy
Hydroxyurea is an oral medication that causes the body to produce fetal hemoglobin (HbF), a type of hemoglobin normally found only in fetuses and very young children. Increasing the healthy fetal hemoglobin can significantly reduce the side effects and complications of sickle cell disease.

✫✫Transfusion therapy
Blood transfusions may be given acutely in order to treat severe anemia, acute chest syndrome, and other life-threatening complications of sickle cell disease. Children with sickle cell disease may receive chronic blood transfusions to prevent complications such as stroke.

✫✫Iron chelators
Sickle cell anemia patients who require chronic red blood cell transfusions to prevent a stroke gradually become iron overloaded. Without removal of this iron, it can build up and become toxic to several vital organs. Iron can be removed from the body by medications called chelators. Children may take chelators orally or by injection in order to remove excess iron from the body. Your child's physician may also recommend specific treatments based on the symptoms your child experiences.

►►For anemia
Prevention:

✦folic acid
✦hydroxyurea

Treatment:
✦blood transfusion
✦For pain

►►Prevention:
✦drinking plenty of water daily (8 to 10 glasses)
✦avoiding dehydration
✦hydroxyurea medication to prevent painful events

Treatment:

receiving fluids intravenously
pain medications such as non-steroidal anti-inflamatories (e.g. ketrolac, ibuprofen) and opioids (e.g. morphine, oxycodone)
For acute chest syndrome (ACS)

Prevention:

✦Hydroxyurea
✦Incentive spirometry (deep breathing)

Treatment:

broad-spectrum antibiotics
blood transfusions to dilute HbS with normal hemoglobin
For splenic sequestration

blood transfusions to dilute HbS with normal hemoglobin and promote ‘release' of blood trapped in the spleen

penicillin for those who have their spleen surgically removed

For stroke
blood transfusion

Stem cell transplant

Right now, the only cure for sickle cell disease is stem cell transplant (also called bone marrow transplant) – the transplantation of normal blood stem cells from another person (the ”donor”) to your child. In sickle cell disease, the best transplant outcomes are almost always when the donor is a healthy sibling with compatible stem cells. The stem cells replace the sickle blood stem cells and restore normal blood production in children with sickle cell disease.

The first step is to determine if the patient has a compatible full-sibling donor. This is done with a blood test or a swab of the cheek.

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