genetic disease Archives

What Is Anemia?

Posted on September 14, 2022 by Jacob Lobosco

Anemia is the most common blood condition in the United States and affects over two billion people globally. More women suffer from iron deficiency anemia than men. Anemia reduces the number of healthy red blood cells available to carry oxygen throughout your body, leaving you feeling tired and weak.

The symptoms of anemia can range from mild and temporary to chronic and severe, potentially causing life-threatening complications such as heart failure. Severe symptoms may be more likely for people over the age of 65.

The severity of anemia mainly depends on its cause, which can include factors such as:

Deficiency of iron, folate, or vitamin B-12
Acute or chronic inflammatory diseases
Radiation and chemotherapy
Infections and autoimmune diseases
Exposure to toxic chemicals
Bone marrow disease
Blood disease
Genetics

Not all forms of anemia are preventable, particularly if it’s inherited genetically or the result of a condition with unclear causes. Increasing your intake of foods rich in iron, folate, and vitamins B-12 and C can help prevent certain forms of anemia or manage anemic symptoms.

Additionally, you may be able to prevent anemia associated with other conditions by managing the risk factors of those conditions. This may include reducing your intake of alcohol or avoiding exposure to toxic substances as much as possible.

A hematologist can provide treatment to help relieve anemia symptoms through intravenous infusions, red blood cell transfusions, bone marrow transplants, erythropoietin injections, or surgery to stop internal bleeding that may cause the condition.

If you’re looking for a diagnosis or anemia treatment, you can schedule an appointment with a hematologist at Jamaica Hospital Medical Center by calling (718) 206-7001.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.

Sickle Cell Awareness Month

Posted on September 7, 2022 by Jacob Lobosco

Over 100,000 Americans suffer from sickle cell disease. According to the National Heart, Lung, and Blood Institute, Black and Hispanic-American babies are most often born with the disease. Additionally, one in every 13 Black babies is born with sickle cell trait (HbAS), which generally doesn’t cause symptoms of sickle cell disease, but may lead to health issues in response to physical stresses such as dehydration or strenuous physical exercise.

A person with sickle cell disease has abnormal hemoglobin, causing their red blood cells to become hard and sticky. These cells form into a shape resembling a sickle and have a short life cycle, leading to a constant shortage of red blood cells and symptoms that include pain, infections, strokes, and acute chest syndrome.

There are also several different forms of sickle cell disease. Common types include:

Sickle cell anemia (HbSS), which causes standard sickle cell disease symptoms as well as potential issues such as delayed puberty and vision problems
HbSC, a typically mild form of sickle cell disease
HbS beta thalassemia, in which a child inherits the genes for both sickle cell disease and beta thalassemia, another cause of abnormal hemoglobin

Rare forms of sickle cell disease include:

HbSD, in which a child inherits the sickle cell “S” gene and a “D” gene
HbSE, in which a child inherits the “S” and “E” genes
HbSO, in which a child inherits the “S” and “O” genes

Sickle cell disease can be diagnosed through a blood test shortly after a baby’s birth or through a sample of the amniotic fluid surrounding a baby in the womb. A blood test can also be used to diagnose an adult with sickle cell disease.

People with sickle cell disease can manage their symptoms by staying hydrated, regulating their body temperature, and avoiding spaces with low oxygen levels. Practicing good hand hygiene can also help.

If you need help managing symptoms of sickle cell disease or sickle cell trait, schedule an appointment with a hematologist at Jamaica Hospital Medical Center’s Department of Internal Medicine at (718) 206-7001.

Dark Circles Under the Eyes

Posted on May 24, 2017 by Joann Ariola

Having dark circles under your eyes is not uncommon but they can be frustrating for those who have them. There are many ways adults and children can develop dark circles under their eyes.

Some of the more common factors that contribute to dark circles are lack of sleep or too much sleep, an iron deficiency, stress, allergies or nasal congestion.

Dark circles under the eyes caused by the more common factors can often be resolved by using over the counter remedies.

If you are getting adequate sleep, have a healthy diet, take vitamin supplements and dark circles still persist, you may have a condition called hyperpigmentation.

Hyperpigmentation is caused by an excessive amount of melanin in your system causing dark patches to develop on the skin. These patches often form under the eyes.

Some additional causes of hyperpigmentation are:

Excessive sun exposure
Scarring
Genetics
Aging
Acne
Burns
Skin pigmentation abnormalities (Thin skin under the eye showing veins)

Since hyperpigmentation does not fade on its own and in some cases can be permanent, you may want to seek the advice of a dermatologist.

To schedule an appointment with a dermatologist at Jamaica Hospital Medical Center, call 718-206-6742.

March is National Kidney Month

Posted on March 1, 2016 by Joann Ariola

March is National Kidney Month and the National Kidney Foundation is urging all Americans to give their kidneys a well-deserved checkup.

The kidneys are two, fist-sized organs in your lower back. They maintain overall health by serving following functions:

Filtering waste out of 200 liters of blood each day
Regulating of the body’s salt, potassium and acid content
Removing toxins from the body.
Balancing the body’s fluids
Releasing hormones that regulate blood pressure
Producing an active form of vitamin D that promotes strong, healthy bones
Controlling the production of red blood cells

According to the U.S. Centers for Disease and Control, some quick facts on Kidney Disease are:

Kidney disease is the 9^th leading cause of death in the country.
More than 26 million Americans have kidney disease, and most don’t know it.
There are over 95,000 people waiting for kidney transplants.
Currently, more than 590,000 people have kidney failure in the U.S. today.

Often times, kidney failure can be prevented or delayed through early detection and proper treatment of underlying disease such as diabetes and high blood pressure which can slow additional damage to the kidneys.

If you are 18 years or older with diabetes, high blood pressure, cardiovascular disease or a family history of kidney disease, you should schedule an appointment with your doctor and ask that you be screened for kidney disease.

If you would like to make an appointment to have your Kidney’s checked, you can call Jamaica Hospital Medical Center’s Ambulatory Care Center at 718-206-7001 for an appointment.

The Winter Itch

Posted on December 2, 2015 by Joann Ariola

Seasonal itchiness is common when the cold, dry winter air takes moisture away from your skin. The top layer of skin is made up of dead skin cells embedded in a mix of natural oils. The oils in this skin layer help keep water inside the body and prevent irritants and germs from entering. The dead cells and skin oils lock some water into the top layer, which keeps the skin soft and smooth. Cold, dry air can damage the top skin layer, allowing water in the skin to escape and cause small cracks that expose underlying cells to irritants and germs. This irritation may cause nerves in the skin to send “itch” signals to the brain.

Weather-related itching may be accompanied by other dry skin symptoms, such as dullness, flakiness, roughness and more visible fine lines. Fortunately, weather-related dry skin isn’t usually serious and is easily treated.

Some products from your local stores can help, such as:

Moisturizers: In the winter, the best types of moisturizers to use are the ones that are oil-based rather than water-based. These are thicker and create a protective layer on the skin that will retain moisture in your skin for longer periods of time.
Sunscreen: Despite the cold temperatures, you can still get sunburned during the winter, which will make your skin even drier. When you plan to be outside, apply sunscreen with a minimum SPF of 15 about 30 minutes before going out. If you are out for longer periods of time reapply the sunscreen every couple of hours.
Gloves: Your hands are one part of your body that is exposed to the cold more often, so protect them whenever you can by wearing warm gloves.
Humidifier: Using a humidifier adds moisture to the air, which can help counteract the effects of using heat in your home or office. Place the humidifier in rooms where you spend most of your time to get the best results.
Oatmeal: Take an oatmeal bath to soothe the itching. In addition to taking these soothing baths, refrain from taking very hot baths and showers in the winter. Instead use warm water and try not to stay in the bath or the shower for too long.

If the itchiness you are experiencing becomes severe or the skin begins to peel or crack significantly, you may have a skin disorder in addition to the typical dryness that occurs during colder months and should consult your physician.

If you itchy skin has become red and cracked, you may want to make an appointment with the Jamaica Hospital Medical Center’s Ambulatory Care Center. It is centrally located and has convenient hours. Call 718-670-XXXXfor an appointment.

How “Annual” Is Your Annual Physical?

Posted on November 30, 2015 by Joann Ariola

A. Yearly

B. Bi-Yearly

C. When I don’t feel good

D. I don’t do doctors

An annual exam is a good way of tracking your health progress. Some of the benefits are:

Primary prevention
To identify risk factors for common chronic diseases
To detect disease that has no apparent symptoms (secondary prevention)
A way for the doctor to counsel people to promote healthy behavior
To update clinical data since your last check-up
To enhance the relationship betweenyou and your doctor

If you are interested in scheduling an exam, Jamaica Hospital Medical Center’s Ambulatory Care Center is centrally located and has convenient hours. Call 718-206-7001 for an appointment.

World Psoriasis Day – October 29 2015

Posted on October 29, 2015 by Andrew Rubin

October 29th has been designated World Psoriasis Day by the International Federation of Psoriasis Association to raise awareness about this disease. It is estimated that worldwide there are 125 million people worldwide who have psoriasis.

Psoriasis is a chronic, reoccurring, immune related inflammatory disorder of the skin. It is believed to have a genetic component which means it can run in families. The disease usually starts to appear in the younger years and continues into adulthood, and it affects men and women equally. There is no known cause other than it is triggered by a malfunctioning of the immune system. Psoriasis is unsightly but is not contagious.

Psoriasis presents as reddish plaques on the skin with silvery scales. These lesions can be very painful and itchy. It can also affect the joints (psoriatic arthritis) which can cause physical and functional deformity. There is no cure for the disease, but treatments do exist that make the skin lesions less painful and less visible.
To make an appointment a dermatologist at Jamaica Hospital’s ambulatory care center please call 718-206-7001.

Rare But True-Disorders That Can Turn Your Skin Blue

Posted on October 27, 2015 by Xavia Malcolm

The Blue Fugates of Troublesome Creek was an entire family from Eastern Kentucky made up of blue-skinned people. Those who knew the Fugates described them as, “blue all over” and “as blue as Lake Louise.”

The Blue Fugates were famously known for inheriting and passing on the rare gene that causes methemoglobinemia, a blood disorder that produces an abnormally high amount of methemoglobin (a form of hemoglobin). Individuals who have this disease are at risk of developing very dark, almost chocolate- colored blood or blue skin. This is because the hemoglobin that they produce is unable to carry sufficient amounts of oxygen throughout the body and oxygenate tissues.

Methemoglobinemia can be inherited or acquired. Acquired cases are more likely to occur and are usually the result of exposure to certain medications or chemicals such as nitrates, silver or benzocaine.

Symptoms of this rare disease can include:

Bluish colored skin
Seizures
Headaches
Shortness of breath
Fatigue

Another disorder that is known to cause the skin to turn to a bluish or silver hue is argyria. This condition results from extended amounts of contact with silver compounds or the ingestion of silver salts.

People who are potentially at risk of developing this condition are those:

Taking medications with silver salts as an ingredient
Taking colloidal silver as a dietary supplement
Have careers that expose them to silver such as silver mining or refining

Cases of this disorder are extremely rare. Paul Karason famously known as “Papa Smurf,” was one of these few people to develop argryia in recent years. He acquired the disorder by drinking a home-made brew that included colloidal silver and using a silver-based salve on his face. He helped raise awareness of this condition as well as the potentially harmful side effects of ingesting silver-based products.

Here is a video of the interview of “The man who turned blue”.

(Video via OWN network)

September is Sickle Cell Awareness Month

Posted on September 18, 2015 by Michael Hinck

September has been designated National Sickle Cell Awareness Month to bring attention to this genetic disease that affects an estimated 100,000 Americans.

Sickle cell disease is an inherited form of anemia – a condition in which red blood cells are unable to carry oxygen throughout the body. For most, red blood cells are round and can move easily through blood vessels, but the red blood cells in people with sickle cell disease are crescent, or half-moon shaped. These irregular shaped cells can get stuck in blood vessels, which can slow or block the flow of oxygen to certain parts of the body.

In addition to being irregular in shape, sickle cells are fragile and break apart easily. Normal red blood cells live an average of four months before they die and need to be replaced. Sickle-shaped cells however only live an average of 20 days. The result of this shortage of blood cells is a loss of energy and general sense of fatigue.
Other symptoms of sickle cell disease include:

• Hand-Foot Syndrome – Often the first sign of sickle cell disease. It is caused by a lack of blood flow to the hands and feet

• Episodes of Pain – Referred to as a “crisis”, these episodes of pain occur when blood flow is blocked to the chest, abdomen, and joints. The frequency and duration of the episodes vary from person to person, but in severe cases, they can result in hospitalization.

• Frequent Infections and Fever– Sickle Cell can cause damage to the spleen, an organ that fights infection, making those with sickle cell at greater risk of developing an infection and an accompanying fever.

• Changes in Skin – People with sickle cell disease can develop a yellow tint to their skin or the whites of their eyes. Skin and nail beds can often become pale.

• Delayed growth – By not receiving enough oxygen rich red blood cells, those with sickle cell disease may also not get the necessary nutrients essential for growth.

The risk of inheriting sickle cell disease is a genetic one. For a baby to be born with it, both parents must carry the sickle cell gene. Doctors can diagnose sickle cell disease before a child is born. Couples who are at risk for passing on this disease to their children may want to talk with a genetic counselor about prenatal testing. The sickle cell gene is more common in families that come from Africa, India, Carribbean islands, and Central and South America.

To determine if you have sickle cell disease, your doctor can order a test to check for hemoglobin S, the defective form of hemoglobin that underlies sickle cell anemia. Further tests can confirm the existence of one gene (carrying the sickle cell trait) or two genes (sickle cell anemia). For those who have sickle cell anemia, treatment is aimed at treating the symptoms and avoiding crisis. Regular check-ups to monitor your red blood cell count are important. Medications are available to reduce pain and prevent complications can be prescribed, and blood transfusions, supplemental oxygen and even bone marrow transplants may also be necessary.

Jamaica Hospital serves a culturally rich and diverse population. Many members of our community are from the parts of the world most often affected by sickle cell disease. In recognition of National Sickle Cell Awareness Month, Jamaica Hospital’s encourages anyone living with sickle cell disease to carefully manage their condition. The hospital also recommends all potential parents to be tested for the sickle cell trait.