Sickle Cell Disease

Have you heard of sickle cell disease (SCD)? Maybe you have, but many people have not, or if they have, they don’t really understand what it’s all about. Sickle cell disease primarily affects those with sub-Saharan African ancestry, but can also occur in Hispanics of Caribbean descent and rarely in those with Middle Eastern and Mediterranean ancestry.

Also called sickle cell anemia, SCD is an inherited blood disorder that causes the red blood cells to have an abnormal shape. Red blood cells normally have a round, doughnut-like shape. People with sickle cell disease have crescent (or sickle) shaped red blood cells.

Hemoglobin and Sickle Cell Disease

 

Each red blood cell contains hemoglobin (Hb), but people with sickle cell disease have abnormal hemoglobin. Hemoglobin performs an essential life-sustaining job – it carries oxygen from the lungs to all parts of the body and then carries waste, in the form of carbon dioxide, back to the respiratory system for exhalation.

The abnormally shaped red blood cells in SCD patients get stuck in blood vessels, blocking proper blood flow, causing excruciating pain, serious infections, and often damaging vital organ systems. People with SCD become anemic, meaning they have a lower than normal level of red blood cells, because sickle cells only last about 10 to 20 days. Normal red blood cells live 120 days.

Diagnosis of Sickle Cell Disease

 

Doctors usually diagnose sickle cell disease during newborn blood screening tests. After receiving positive results for SCD on a newborn screening test, a second test, called hemoglobin electrophoresis, confirms the diagnosis and the exact variant of SCD.

People with SCD have two genes for sickle cell hemoglobin. They inherited one defective gene from each parent. Some people inherit only one sickle cell hemoglobin gene from one parent. These people have sickle cell trait and typically do not have any symptoms or complications associated with SCD.

Some children inherit a gene for sickle cell hemoglobin from one parent and a gene for another type of defective hemoglobin from another parent. These people will experience symptoms, but possibly not as severe as those with two sickle cell genes.

Symptoms and Complications

 

The various symptoms and complications associated with SCD range from mild to severe depending on whether the person has:

 

• Two sickle cell Hb genes
• One sickle cell gene and one gene for another type of abnormal Hb

 

Some symptoms for SCD include:

 

• Acute chest syndrome – tiny blood vessels in the lungs become blocked causing intense pain, breathing problems, coughing, and fever.
• Painful crises – may occur anywhere in the body when blood vessels become blocked by stiff, sticky sickle cells. Dehydration and cold may bring on a painful crisis. Frequently, those in a pain crisis require hospitalization because of the severe pain.
• Aplastic crisis – occurs when the bone marrow stops or slows production of red blood cells because of infection or other cause. Results in severe anemia characterized by fatigue and pallid skin color.
• Dactylitis – also called hand and foot syndrome and characterized by painful swelling of the hands and feet.
• Pulmonary hypertension – a dangerous condition that occurs in a large number of adults with SCD when the tiny vessels in the lungs become blocked, causing pressure to rise in the respiratory system.
• Enlarged spleen – the spleen can become enlarged when sickle cells collect in the organ, causing pain and severe anemia.
• Stroke – blocked blood vessels in the brain can lead to stroke. Signs include seizures, headache, weakness, slurred speech.
• Infection – people with SCD who develop a fever should see a physician immediately.
• Other symptoms – Eye damage, joint and bone problems, delayed growth, priapism (prolonged erection in males), organ system failure.

Treatment of Sickle Cell Disease

 

Treatment of sickle cell disease includes managing symptoms and complications. People can address mild pain from the disease with over the counter medications and heating pads. Staying hydrated and taking daily folic acid supplements represent two other ways patients can help stave off pain crises and complications.

 

Doctors treat more severe pain and dangerous complications, such as anemia with the following:

• Opiate-based pain medication – for severe pain
• Blood transfusions – to treat severe anemia
• Hydroxyurea – reduces frequency of some pain crises
• Vaccinations – to stave off infections
• Transcranial Doppler ultrasound (TCD) – to look for blockage of brain blood vessels and prevent stroke
• Regular eye exams – to check for retinal damage
• Daily doses of antibiotics

 

Bone marrow transplants represent the only known cure for SCD and only a precious few people (usually children) are eligible for this risky and complex treatment. Scientists continue to research new drug treatments, gene therapy, and for predicting the severity of SCD.

People with sickle cell disease need your support and help. Think about donating blood for sickle cell patients and for use in sickle cell research. Those who can, please consider donating money specifically for sickle cell disease research.

 

Together we can stop this devastating disease and become part of the solution.

 

Written By Samantha Gluck
Member: Association of Health Care Journalists
Member: Society of Professional Journalists
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