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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 instead they are crescent, or sickle, shaped.

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)?

SCD is caused by a variant (change) in a gene that has instructions for your body to make one part of the hemoglobin. This changed gene is sometimes called a sickle cell gene. People with SCD 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 more likely to have sickle cell disease (SCD)?

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

  • About 1 in 13 Black or African American babies are born with sickle cell trait
  • About 1 in every 365 Black or African American babies are 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 or 6 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. Genetic tests can tell if you have one or two copies of the sickle cell gene. Genetic tests can help confirm an SCD diagnosis if the results from blood tests are not clear.

All states now test newborns for SCD (as well as many other treatable conditions) as part of their screening programs. These programs help find the conditions early, so treatment can be started right away.

Health care providers 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).

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

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

There are many ways to manage sickle cell disease. Your medical team will probably include a hematologist, a doctor who specializes in blood diseases. You will work with your medical team to set up a treatment plan. Possible treatment options may include:

  • Treatments that can help relieve symptoms and lessen complications, including:
    • Hydroxyurea, a medicine to reduce sickling of red blood cells. This can help prevent serious symptoms of sickle cell disease. This medicine can be used in adults and in children as young as 9 months old. But this medicine is not safe during pregnancy.
    • Voxelotor, another medicine to prevent the sickling of red blood cells. It can be used in adults and children ages 4 years and older.
    • Pain relievers for acute or chronic pain.
    • Antibiotics to try to prevent infections in younger children.
    • Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.
    • Other treatments for specific complications, such as medicines to lower blood pressure and vitamins to treat a vitamin deficiency.
  • Bone marrow or stem cell transplantation, which can cure SCD. 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.
  • Gene therapies to treat SCD in people who are 12 years and older and have had repeated sickle cell crises. These new therapies involve taking some of your blood stem cells and either adding new DNA to them or changing their existing DNA. Then these cells are given back to you, and they can make a type of hemoglobin that is healthy. This can reduce the complications of SCD, including the SCD crises.

Complementary and alternative medicine (CAM) seems to help some people deal with pain caused by SCD. These types of CAM may lower your pain, especially if it is not well managed with medicines::

  • Cognitive behavioral therapy (a type of counseling)
  • Acupuncture
  • Exercise or movement programs, such as yoga
  • Massage
  • Meditation and mindfulness practices
  • Virtual reality, a computer-generated 3D environment you can see with special goggles

It's also important to take steps to keep yourself as healthy as possible:

  • Get regular medical care
  • Get your routine vaccinations
  • Live a healthy lifestyle
  • 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

What is thyroid cancer?

Thyroid cancer is a cancer that starts in the tissues of the thyroid. Your thyroid is a small, butterfly-shaped gland in the front of your neck. It makes hormones that control the way the body uses energy. These hormones affect nearly every organ in your body and control many of your body's most important functions. For example, they affect your breathing, heart rate, weight, digestion, and moods.

What are the different types of thyroid cancer?

There are different types of thyroid cancer; the main ones include:

  • Differentiated thyroid cancer, which includes papillary cancer and follicular cancer
  • Medullary thyroid cancer
  • Anaplastic thyroid cancer
Who is more likely to develop thyroid cancer?

Certain people are more likely to develop thyroid cancer. Your risk is higher if you:

  • Are between ages 25 and 65
  • Are a woman
  • Are Asian
  • Were exposed to certain types of radiation, including from radiation treatments to your head or neck as a child or from a radiation emergency
  • Have had a goiter (enlarged thyroid)
  • Having certain genetic conditions, including certain types of multiple endocrine neoplasia
  • Have a family history of thyroid cancer or thyroid disease
What are the symptoms of thyroid cancer?

Thyroid cancer may not cause symptoms at first. It is sometimes found during a routine physical exam. You may get signs or symptoms as the cancer gets bigger. The symptoms may include:

  • A lump (nodule) in the neck
  • Trouble breathing
  • Trouble swallowing
  • Pain when swallowing
  • Hoarseness or other changes to your voice that do not get better
How is thyroid cancer diagnosed?

To find out if you have thyroid cancer, your health care provider may use:

  • A physical exam, including checking your neck for swelling, lumps, or anything that seems unusual
  • A medical history
  • Thyroid tests
  • Other blood or imaging tests
  • A biopsy
What are the treatments for thyroid cancer?

Treatment for thyroid cancer depends on the type of cancer you have and whether the cancer has spread. Often, more than one type of treatment may be needed. The treatment options include:

  • Surgery.
  • Radiation therapy, including radioactive iodine therapy.
  • Chemotherapy.
  • Thyroid hormone therapy.
  • Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells.
  • Watchful waiting, which means that you don't get treatment right away. Your regularly checks to see if your signs or symptoms appear or change.

NIH: National Cancer Institute

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