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Sickle Cell Disease

What is sickle cell disease (SCD)?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape.

The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

What causes sickle cell disease (SCD)?

The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent.

If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.

Who is at risk for sickle cell disease (SCD)?

In the United States, most of the people with SCD are African Americans:

  • About 1 in 13 African American babies is born with sickle cell trait
  • About 1 in every 365 black children is born with sickle cell disease

SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

What are the symptoms of sickle cell disease (SCD)?

People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include

  • Painful swelling of the hands and feet
  • Fatigue or fussiness from anemia
  • A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)

The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.

How is sickle cell disease (SCD) diagnosed?

A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.

People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.

Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).

What are the treatments for sickle cell disease (SCD)?

The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.

There are treatments that can help relieve symptoms, lessen complications, and prolong life:

  • Antibiotics to try to prevent infections in younger children
  • Pain relievers for acute or chronic pain
  • Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy.
  • Childhood vaccinations to prevent infections
  • Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.

There are other treatments for specific complications.

To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis.

NIH: National Heart, Lung, and Blood Institute

Stomach Cancer

The stomach is an organ between the esophagus and the small intestine. It mixes food with stomach acid and helps digest protein. Stomach cancer mostly affects older people - two-thirds of people who have it are over age 65. Your risk of getting it is also higher if you

  • Have had a Helicobacter pylori infection
  • Have had stomach inflammation
  • Are a man
  • Eat lots of salted, smoked, or pickled foods
  • Smoke cigarettes
  • Have a family history of stomach cancer

It is hard to diagnose stomach cancer in its early stages. Indigestion and stomach discomfort can be symptoms of early cancer, but other problems can cause the same symptoms. In advanced cases, there may be blood in your stool, vomiting, unexplained weight loss, jaundice, or trouble swallowing. Doctors diagnose stomach cancer with a physical exam, blood and imaging tests, an endoscopy, and a biopsy.

Because it is often found late, it can be hard to treat stomach cancer. Treatment options include surgery, chemotherapy, radiation or a combination.

NIH: National Cancer Institute

Swallowing Disorders

If you have a swallowing disorder, you may have difficulty or pain when swallowing. Some people cannot swallow at all. Others may have trouble swallowing liquids, foods, or saliva. This makes it hard to eat. Often, it can be difficult to take in enough calories and fluids to nourish your body.

Anyone can have a swallowing disorder, but it is more common in older adults. It often happens because of other conditions, including

  • Nervous system disorders, such as Parkinson's disease and cerebral palsy
  • Problems with your esophagus, including GERD (gastroesophageal reflux disease)
  • Stroke
  • Head or spinal cord injury
  • Cancer of the head, neck, or esophagus

Medicines can help some people, while others may need surgery. Swallowing treatment with a speech-language pathologist can help. You may find it helpful to change your diet or hold your head or neck in a certain way when you eat. In very serious cases, people may need feeding tubes.

NIH: National Institute on Deafness and Other Communication Disorders

Testicular Disorders

Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports.

You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.

Thyroid Cancer

Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you

  • Are between ages 25 and 65
  • Are a woman
  • Are Asian
  • Have a family member who has had thyroid disease
  • Have had radiation treatments to your head or neck

You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, thyroid tests, other blood and imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses drugs or other substances that attack specific cancer cells with less harm to normal cells.

NIH: National Cancer Institute