Archive | August 2016

Prostate Cancer

Normal Prostate vs. Benign Prostatic Hyperplasia

BPH

Prostate cancer is the second most common cancer among men, first is skin cancer.

African-American men are at the greatest risk to develop prostate cancer. 

The American Cancer Society recommends men with an average risk of prostate cancer should begin the discussion about screening at age 50, while men with higher risk of prostate cancer should begin earlier.

Sexual health is a major overall health marker for men — 1 in 4 men will experience some form of sexual health concern by age 65.

Erectile dysfunction and lower testosterone are linked to larger health risks, including heart disease, high blood pressure-HBP, diabetes and obesity. Remember African Americans are high for blood pressure. Perhaps higher rates of obesity and diabetes place African Americans at greater risk for high blood pressure and heart disease. Researchers have also found that there may be a gene that makes African-Americans much more salt sensitive. This trait increases the risk of developing HBP. In people who have this gene, as little as one extra gram (half a teaspoon) of salt could raise blood pressure as much as five millimeters of mercury (mm Hg). Don’t forget bad diet, overweight to obese and sedentary life style play vital factors for getting HBP so on average it’s not just a gene factor but heredity does key in especially if you have disease (DM, Obese, Cardiac disease with HBP in the nuclear family especially).

BPH is monitored but there is no active treatment. Diet and medicine can control symptoms. You will have a yearly exam. Your health care provider will look for worse or new symptoms before beginning active treatment.

Why go to your health care provider? He will do a yearly exam looking for worse or new symptoms before beginning active treatment. Who should do this? Good candidates which are men with mild signs and symptoms of BPH, There are no side effects in having your doctor check you out. Just remember avoidance to the M.D. may make the situation to be harder to reduce your symptoms later on for not going to the M.D. yearly.

The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men. Benign prostatic hyperplasia does not develop in men whose testicles were removed before puberty. For this reason, some researchers believe factors related to aging and the testicles may cause benign prostatic hyperplasia.

Throughout their lives, men produce testosterone, a male hormone, and small amounts of estrogen, a female hormone. As men age the amount of active testosterone in their blood decreases, which leaves a higher proportion of estrogen. Scientific studies have suggested that benign prostatic hyperplasia may occur because the higher proportion of estrogen within the prostate increases the activity of substances that promote prostate cell growth.

Another theory focuses on dihydrotestosterone (DHT), a male hormone that plays a role in prostate development and growth. Some research has indicated that even with a drop in blood testosterone levels, older men continue to produce and accumulate high levels of DHT in the prostate. This accumulation of DHT may encourage prostate cells to continue to grow. Scientists have noted that men who do not produce DHT do not develop benign prostatic hyperplasia.

Risk factors include aging and a family history of BPH. Other risk factors are obesity, lack of physical activity, and erectile dysfunction (ED).

Can BPH be prevented?

There is no sure way to prevent BPH. Because excess body fat may affect hormone levels and cell growth, diet may play a role. Losing weight and eating a healthy diet, with fruits and vegetables, may help prevent BPH. Staying active also helps weight and hormone levels.

With BPH, the prostate gets larger. When it is enlarged, it can irritate or block the bladder. A common symptom of BPH is the need to urinate often. This can be every one to two hours, especially at night.

Other symptoms include:

  • Feeling that the bladder is full, even right after urinating
  • Feeling that urinating “can’t wait”
  • Weak urine flow
  • Dribbling of urine
  • The need to stop and start urinating several times
  • Trouble starting to urinate
  • The need to push or strain to urinate

In severe cases, you might not be able to urinate at all. This is an emergency. It must be treated right away. It is foolish for someone to not get checked or treated since the condition like any other disease left untreated will only worsen and in time possibly kill you (Ex. CHF OR Diabetes OR even Obesity).

How Can BPH Affect Your Life?

In most men, BPH gets worse as you age. It can lead to bladder damage and infection. It can cause blood in the urine. It can even cause kidney damage. Men with BPH should get treated. Mild cases of BPH may need no treatment at all. In some cases, minimally invasive procedures that do not require anesthesia are good choices. And sometimes a combination of medical treatments works best.

Transurethral resection of the prostate (TURP) is a type of prostate surgery done to relieve moderate to severe urinary symptoms caused by an enlarged prostate, a condition known as benign prostatic hyperplasia (BPH).

During TURP, a combined visual and surgical instrument (resectoscope) is inserted through the tip of your penis and into the tube that carries urine from your bladder (urethra). The urethra is surrounded by the prostate. Using the resectoscope, your doctor trims away excess prostate tissue that’s blocking urine flow and increases the size of the channel that allows you to empty your bladder.

TURP is one of the most effective options for treating urinary symptoms caused by BPH.

Other forms of surgeries (minimally invasive) are:

There are several types of minimally invasive procedures to choose from, they include:

  • Prostatic Stent                                                                
  • High Intensity Focused Ultrasound (HIFU)
  • Holmium Laser Enucleation of Prostate (HoLEP)
  • Interstitial Laser Coagulation (ILC)
  • Transurethral Electroevaporation of The Prostate TUVP
  • Transurethral Microwave Thermotherapy (TUMT)
  • Transurethral Needle Ablation (TUNA)
  • Photoselective Vaporization (PVP)
  • UroLift
  • Catheterization
  • How do you know which is best for you GO to the M.D. (Urologist), whose the expert in making that decision. Guess what guys? Many less invasive procedures can be done right in the doctor’s office. So go find out if you’re having symptoms of BPH! 
  • How do you know which is best for you GO to the M.D. (Urologist), whose the expert in making that decision. Guess what guys? Many less invasive procedures can be done right in the doctor’s office. So go find out if you’re having symptoms of BPH!

QUOTE FOR FRIDAY:

Initially, iron deficiency anemia can be so mild that it goes unnoticed. But as the body becomes more deficient in iron and anemia worsens, the signs and symptoms intensify.

MATO CLINIC

Part II Anemia

Anemia Part IIAnemia Part 2

This form of iron deficiency anemia is treated with changes in your diet and iron supplements.

If the underlying cause of iron deficiency is loss of blood — other than from menstruation — the source of the bleeding must be located and stopped. This may involve surgery.

    • Rapid growth cycles (infancy, adolescence)
    • Heavy menstrual bleeding or chronic blood loss from the GI tract
    • Pregnancy
    • Diets that contain insufficient iron (rare in the United States)
    • Breastfed infants who have not started on solid food after six months of age
    • Babies who are given cow’s milk prior to age 12 months
  • AlcoholismMost often healthy red blood cells last between 90 and 120 days. Parts of your body then remove old blood cells. A hormone called erythropoietin (epo) made in your kidneys signals your bone marrow to make more red blood cells.To first diagnose the person with any anemia the following needs to be done to help the doctor in diagnostic tooling , which is tests to rule out and rule in what the actual problem isn’t or is. With the MD knowing the results of these tests it will guide the doctor knowing the correct diagnosis to use the best treatment to either cure or get the problem under control (Ex. What is curable is iron deficiency anemia but sickle cell anemia is not).

 

  • Hemoglobin is the oxygen-carrying protein inside red blood cells. It gives red blood cells their red color. People with anemia do not have enough hemoglobin.                                                                                                                                                                                                  
  • Although many parts of the body help make red blood cells, most of the work is done in the bone marrow. Bone marrow is the soft tissue in the center of bones that helps form all blood cells.

The diagnosis tests that are usually done by a doctor are the following:                              

Physical exam. During a physical exam, your doctor may listen to your heart and your breathing. Your doctor may also place his or her hands on your abdomen to feel the size of your liver and spleen. He would look at the color of the skin and the eyes to look for paleness.

Blood Tests. Your doctor would do the basis blood tests being a CBC which is used to count the number of blood cells in a sample of your blood. For anemia, your doctor will be interested in the levels of the red blood cells contained in the blood particularly your hematocrit (the solids of the blood) and the hemoglobin (the liguid of your blood) in your bloodstream. If anemic both of these will be low and hematocrit below 7.0 down to 6.0 is critical.

Normal adult hematocrit values vary from one medical practice to another but are generally between 40 and 52 percent for men and 35 and 47 percent for women. Normal adult hemoglobin values are generally 14 to 18 grams per deciliter for men and 12 to 16 grams per deciliter for women.

Additional testing maybe ordered as well; like the following to help determine what the person has with the what treatment to tell the MD is needed to help the individual get better.

This could be: . A test to determine the size and shape of your red blood cells. Some of your red blood cells may also be examined for unusual size, shape and color. Doing so can help pinpoint a diagnosis. For example, in iron deficiency anemia, red blood cells are smaller and paler in color than normal. In vitamin deficiency anemias, red blood cells are enlarged and fewer in number.

If you receive a diagnosis of anemia, your doctor may order additional tests to determine the underlying cause. For example, iron deficiency anemia can result from chronic bleeding of ulcers, benign polyps in the colon, colon cancer, tumors or kidney problems.

Occasionally, it may be necessary to study a sample of your bone marrow to diagnose anemia.

                                                                                                                                                                                           ***Treatment for iron-deficiency anemia will depend on its cause and severity. Treatments may include dietary changes and supplements, medicines, and surgery.

Severe iron-deficiency anemia may require a blood transfusion, iron injections, or intravenous (IV) iron therapy. Treatment may need to be done in a hospital.

The goals of treating iron-deficiency anemia are to treat its underlying cause and restore normal levels of red blood cells, hemoglobin, and iron.*****

 

 

                                                                                                           

QUOTE FOR THURSDAY:

“Anemia is a condition in which you don’t have enough healthy red blood cells to carry adequate oxygen to the body’s tissues. Having anemia may make you feel tired and weak”

MAYO CLINIC

Anemia

anemia2anemia                                anemia

 

 

Anemia develops when you don’t have enough robust, healthy red blood cells to carry oxygen throughout your body. The blood cells may lack enough hemoglobin, the protein that gives blood its red color. Anemia affects one in 10 teen girls and women. It also develops in men and children and is linked to some illnesses.  Anemia is a condition that develops when your blood lacks enough healthy red blood cells or hemoglobin. Hemoglobin is a main part of red blood cells and binds oxygen. If you have too few or abnormal red blood cells, or your hemoglobin is abnormal or low, the cells in your body will not get enough oxygen. Symptoms of anemia — like fatigue — occur because organs aren’t getting what they need to function properly.

Anemia is the most common blood condition in the U.S. It affects about 3.5 million Americans. Women, young children, and people with chronic diseases are at increased risk of anemia.

There types of different anemia’s but today’s we’ll look more into is Iron deficiency anemia.

 Iron deficiency anemia is a common type of anemia — a condition in which blood lacks adequate healthy red blood cells. Red blood cells carry oxygen to the body’s tissues.

As the name implies, iron deficiency anemia is due to insufficient iron. Without enough iron, your body can’t produce enough of a substance in red blood cells that enables them to carry oxygen (hemoglobin). As a result, iron deficiency anemia may leave you tired and short of breath.

You can usually correct iron deficiency anemia with iron supplementation. Sometimes additional tests or treatments for iron deficiency anemia are necessary, especially if your doctor suspects that you’re bleeding internally.

Initially, iron deficiency anemia can be so mild that it goes unnoticed. But as the body becomes more deficient in iron and anemia worsens, the signs and symptoms intensify.

Iron deficiency anemia symptoms may include:

  • Extreme fatigue, Pale skin, Weakness, Shortness of breath, Chest pain, Frequent infections
  • Headache, Dizziness or lightheadedness, Cold hands and feet, Inflammation or soreness of your tongue, Brittle nails, and Fast heartbeat.
  • Unusual cravings for non-nutritive substances, such as ice, dirt or starch.
  • Poor appetite, especially in infants and children with iron deficiency anemia.
  • An uncomfortable tingling or crawling feeling in your legs (restless legs syndrome).

Causes of iron deficiency anemia include:

  • Blood loss. Blood contains iron within red blood cells. So if you lose blood, you lose some iron. Women with heavy periods are at risk of iron deficiency anemia because they lose blood during menstruation. Slow, chronic blood loss within the body — such as from a peptic ulcer, a hiatal hernia, a colon polyp or colorectal cancer — can cause iron deficiency anemia. Gastrointestinal bleeding can result from regular use of some over-the-counter pain relievers, especially aspirin.
  • A lack of iron in your diet. Your body regularly gets iron from the foods you eat. If you consume too little iron, over time your body can become iron deficient. Examples of iron-rich foods include meat, eggs, leafy green vegetables and iron-fortified foods. For proper growth and development, infants and children need iron from their diet, too.
  • An inability to absorb iron. Iron from food is absorbed into your bloodstream in your small intestine. An intestinal disorder, such as celiac disease, which affects your intestine’s ability to absorb nutrients from digested food, can lead to iron deficiency anemia. If part of your small intestine has been bypassed or removed surgically, that may affect your ability to absorb iron and other nutrients.
  • Without iron supplementation, iron deficiency anemia occurs in many pregnant women because their iron stores need to serve their own increased blood volume as well as be a source of hemoglobin for the growing fetus.

Those at risk for anemia:

Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation.

Anemia can develop during pregnancy due to low levels of iron and folic acid (folate) and changes in the blood. During the first 6 months of pregnancy, the fluid portion of a woman’s blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia.

During the first year of life, some babies are at risk for anemia because of iron deficiency. At-risk infants include those who are born too early and infants who are fed breast milk only or formula that isn’t fortified with iron. These infants can develop iron deficiency by 6 months of age.

Infants between 1 and 2 years of age also are at risk for anemia. They may not get enough iron in their diets, especially if they drink a lot of cow’s milk. Cow’s milk is low in the iron needed for growth.

Drinking too much cow’s milk may keep an infant or toddler from eating enough iron-rich foods or absorbing enough iron from foods.

Older adults also are at increased risk for anemia. Researchers continue to study how the condition affects older adults. Many of these people have other medical conditions as well.

Major Risk Factors for anemia:

  • A diet that is low in iron, vitamins, or minerals
  • Blood loss from surgery or an injury
  • Long-term or serious illnesses, such as kidney disease, cancer, diabetes, rheumatoid arthritis, HIV/AIDS, inflammatory bowel disease (including Crohn’s disease), liver disease, heart failure, and thyroid disease
  • Long-term infections
  • A family history of inherited anemia, such as sickle cell anemia or thalassemia.

Complications of Anemia

Some people who have anemia may have arrhythmias. Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure.

Anemia also can damage other organs in your body because your blood can’t get enough oxygen to them.

Anemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well.

Anemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.

QUOTE FOR WEDNESDAY:

“Several years ago, it was all about West Nile and now Zika virus.  All kinds of celebrities are engaged in solutions to Malaria for third world countries.  Obviously, we’re familiar with all of them. But which disease are you most likely to get and which are you most likely to recuperate from?

A little bit of background on mosquitoes.  They must have water to lay eggs.  It doesn’t need to be much water at all – just enough to fill the palm of your hand.  The mosquitoes lay eggs that hatch into water-loving larva.  The larval stage is brief – only 3 days or so – and water is the essential ingredient.”

Greenbugallnatural

 

 

NYC taking action in all 5 Burroughs to prevent Zika & West Nile Viruses. Infection Control!

zika2  zika1zikavirus3   westnilevirus

West Nile Virus  west-nile-virus-5

The Department of Health in New York is taking action against mosquitoes who spread the Zika virus with the West Nile Virus.  Zika Virus is an epidemic already in Florida but NYC is trying to stop this.  How?  Well AM radio station  1010Wins stated yesterday that Tonight at 10pm till the am and now Fox news states tomottow at 6am the action will start; which is pesticides in the air will be dropped in the sky for hours to prevent amid growing concern of these mosquitoes spreading Zika or West Nile Virus to New York City areas.   Hopefully other areas of NY and the NE will be prevented long before a cases show up before the other cities/towns take action.

While assuring residents that the virus is not spreading in New York City, it says local mosquitoes are spreading other diseases like the West Nile Virus.

With mosquito season upon us, the city is going to begin a three day aerial bombardment of marsh and other non-residential areas at some two dozen sites in the Bronx, Queens, Staten Island and Brooklyn Fox News states but all 5 buroughs covered 1010 wins states also.

Officials say they will use “environmentally friendly” larvicide to kill the infant mosquito larvae.

With projected hot and damp weather the mosquito population is expected to have huge growth this season.

Residents Fox News spoke to in Marine Park, Brooklyn said they were concerned and relieved that the city is taking action.

Mike Nagar said he’s skeptical about how safe the chemicals are that will be sprayed but would you rather be diseased with Zika or West Nile Virus or God knows what if no action is taken place.

Standing beside his pregnant wife, Daniel Cicolello said he’s concerned because the mosquito-borne Zika virus impacts pregnant women.

Those so terribly concerned should ease their conscious and get out of NY for TH,FRI and the Weekend and come home on SUN or deal with infection control measures rather than do nothing.

It is known to cause birth defects. It is not considered dangerous for most people and action to prevent an epidemic is a must to prevent a negative domino effect spreading it on or too many people or everyone to kill some and get others terribly sick with continuous spreading.  If the mosquitoes don’t get controlled neither will the Zika or West Nile Virus.

Health officials note that there have been 78 cases of Zika reported in the city, but that all the patients have recovered.

Part II Albinism

                                                               Albinism1a

Genetics of Albinism

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

Vision Rehabilitation

Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:

  • Nystagmus: regular horizontal back and forth movement of the eyes
  • Strabismus: muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
  • Photophobia: sensitivity to bright light and glare
  • People with albinism may be either far-sighted or near-sighted and usually have astigmatism
  • Foveal hypoplasia: the retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy
  • Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes
  • The iris, the colored area in the center of the eye, has little to no pigment to screen out stray light coming into the eye. (Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well.)People with albinism are sensitive to glare, but they do not prefer to be in the dark, and they need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front.Some people with albinism use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that one can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving.Medical ProblemsIn tropical countries, those who do not use skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreen lotions rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer.Funding for the development and original printing of this information Bulletin was provided by the Innovating Worthy Projects Foundation of Somers Point, New Jersey. NOAH gratefully acknowledges their assistance. Revised 2007 by Rick Thompson, O.D., F.A.A.O. NOAH Board of Scientific Advisors, Kelsey Thompson, M.S., C.R.C., Chair, NOAH Editorial Committee.Hermansky-Pudlak Syndrome NetworkPositive ExposureAmerican Foundation for the Blind (AFB)Canadian National Institute for the Blind (CNIB)National Society of Genetic Counselors
  • Maintains a referral list of genetic counselors Phone: 610-872-7608 Web: www.nsgc.org
  • 1929 Bayview Avenue Toronto, ON M4G 3E8 Phone: 800-563-2642 Web: www.cnib.ca
  • Provides information about programs and clinics for people with impaired vision throughout the United States 11 Penn Plaza, Suite 300 New York, NY 10001 Phone: 800-AFB-LIND Web:www.afb.org
  • A nonprofit organization offering innovative photographic exhibits, challenging the stigma associated with difference and celebrating the richness of genetic variation. 43 E. 20th St., 6th Floor New York, NY 10003 Phone: 212-420-1931 Web: www.positiveexposure.org
  • A NOAH affiliate providing information and support to individuals and families with HPS One South Road Oyster Bay, NY 11771-1905 Phone: 800-789-9HPS Web: www.hpsnetwork.org
  • Resources
  • People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities of color, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort not to exclude children with albinism from group activities. Contact with others with albinism or who have albinism in their families or communities is most helpful. NOAH can provide the names of contacts in many regions of the country.
  • In the United States, most people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with Hermansky-Pudlak Syndrome can be shortened by lung disease or other problems. Other conditions include Chediak-Higashi and Griscelli Syndrome.
  • Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan and provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics. In Canada, support is available from the Canadian National Institute for the Blind.
  • Various optical aids are helpful to people with albinism and the choice of an optical aid depends on how a person uses his or her eyes in jobs, hobbies, or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes and some prefer to use screen magnification products on computers.
  • For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not improve eyesight or fine binocular vision. In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

QUOTE FOR TUESDAY:

“I now realize that I have a platform to inspire young girls, and as someone who never had a role model who looked like me when I was growing up, I now hope to be able to show that albinism can be beautiful and is just another kind of normal.”

Thando Hopa  (#SouthAfrican #African #Africa #Motherland #Model #Albino)

What is Albinism?

Albinism2  Albinism3                                               Albinism1a

The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Vision Problems

People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye examination.

Skin Problems

While most people with albinism are fair in complexion, skin or hair color is not diagnostic of albinism. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.

Types of Albinism

While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged and vision may be better. Early descriptions of albinism called these main categories of albinism “complete” and “incomplete” albinism. Later researchers used a test that involved plucking a hair root and seeing if it would make pigment in a test tube. This test separated “ty-neg” (no pigment) from “ty-pos” (some pigment). Further research showed that this test was inconsistent and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Four forms of OCA are now recognized – OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.

  • Oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism) results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin.
  • Oculocutaneous albinism type 2 (OCA2 or P gene albinism) results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. Individuals with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown.
  • Oculocutaneous albinism type 3 (OCA3) is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.
  • Oculocutaneous albinism type 4 (OCA4) results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. Individuals with OCA4 make a minimal amount of melanin pigment similar to persons with OCA2.
  • Researchers have also identified several other genes that result in albinism with other features. One group of these includes at least eight genes leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.