A Genetic Blood Disorder: Sickle Cell Anemia

A Genetic Blood Disorder: Sickle Cell Anemia

Sickle cell anemia is a genetic blood disorder in which a hemoglobin mutation causes healthy red blood cells to change shape from round to sickle-shaped, greatly reducing the live span of those blood cells which carry oxygen to the body.

In addition, the withered, sickle-shaped blood cells become sticky, making it impossible for them to carry out their task of transporting oxygen through the body. It can also result in numerous life-threatening conditions, including damage to the heart, liver, and other organs, hypertension, and the risk of strokes.

The symptom normally associated with sickle cell anemia is fatigue. However, symptoms can include episodic or chronic pain, most often in the joints and/or the chest. Patients can experience numbness and strokes that result in partial paralysis. They are also prone to infections in the lungs and elsewhere.

Sickle cell anemia can also cause swelling in the feet and hands and problems with vision. Blindness can result. Patients also experience delays in growth and the onset of puberty. The risk of gallstones is also increased.

Some patients experience leg ulcers, organ damage, and a yellow or pale tint to the skin. The affected organs include the kidneys, liver, spleen, or lungs.


Sickle cell anemia is most often diagnosed at five months of age, although it can also be detected by testing pregnancy-related fluids (amniotic fluid) found in the embryonic sack. The illness is only possible for a child where both parents carry the dominant form of an abnormal gene pattern. Parents can be tested for this gene pattern before they attempt to conceive.

Blood tests are also used to detect sickle cell anemia. The blood samples are sent to a laboratory where technicians look for unhealthy hemoglobin, which is an iron-rich protein that helps normal cells transport oxygen throughout the body.

Treatment and Lifestyle Changes

There is no simple for sickle cell anemia, but there are medical interventions and lifestyle changes recommended. Medical interventions can reduce pain and reduce episodes of fatigue, as well as reducing the chances of an infection.


Various medications are used to prevent infections or reduce pain. Your doctor might prescribe one or more of the following:

– Hydroxyurea, which decreases pain episodes and could help reduce the need for blood transfusions.

– L-glutamine oral powder is also recommended for reducing the frequency of pain

– Crizanlizumab also reduces the frequency of attacks of pain

– Pain relief medication (consult your physician to ascertain which one is best for you

– Voxelotor is used to reduce fatigue symptoms

– Discuss unwanted side effects before undertaken any medication regiment.

Blood Transfusions

Blood transfusions can be used to increase the number of healthy red blood cells in your circulatory system. However, similar to many medical interventions, there are complications to consider.

The blood a patient is given is formulated to be high in healthy red blood cells, but red blood cells are high in iron, which is harmful, over time, to your heart and liver. Your body’s immune system could also reject the infusion.

Bone Marrow Transplant

Also called a stem cell transplant, this procedure can cause serious complications if the patient’s body rejects the new bone marrow. However, if bone marrow transplant works it can also cure the disease.

Ask your physician to explain all the risks associated with a bone marrow transplant. Even if things go well, this involves a long-term stay in the hospital. A matching donor must also be found. Risks are so great, however, that this procedure is normally attempted only with children who have more severe symptoms of sickle cell anemia.

If you suspect your child has any signs of sickle cell anemia, call Pacific Medical Care in San Diego at 619-333-8114. Let us put you back on the road to better health.

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