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thalassemias

Thalassemia

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.

Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.

Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.

NIH: National Heart, Lung, and Blood Institute

Newborn Screening

Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include:

These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.

If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.

NIH: National Institute of Child Health and Human Development

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include:

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

NIH: National Heart, Lung, and Blood Institute

Bone Marrow Transplantation

Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into red blood cells, which carry oxygen throughout the body, white blood cells, which fight infections, and platelets, which help the blood to clot.

A bone marrow transplant is a procedure that replaces a person's faulty bone marrow stem cells. Doctors use these transplants to treat people with certain diseases, such as:

Before you have a transplant, you need to get high doses of chemotherapy and possibly radiation. This destroys the faulty stem cells in your bone marrow. It also suppresses your body's immune system so that it won't attack the new stem cells after the transplant.

In some cases, you can donate your own bone marrow stem cells in advance. The cells are saved and then used later on. Or you can get cells from a donor. The donor might be a family member or unrelated person.

Bone marrow transplantation has serious risks. Some complications can be life-threatening. But for some people, it is the best hope for a cure or a longer life.

NIH: National Heart, Lung, and Blood Institute

Developmental Disabilities

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living.

There are many causes of developmental disabilities, including:

Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help.

NIH: National Institute of Child Health and Human Development

Hemochromatosis

Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.

There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.

Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.

Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.

NIH: National Heart, Lung, and Blood Institute

Blood Disorders

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets.

Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet.

Types of blood disorders include:

Iron

What is iron?

Iron is a mineral that our bodies need for growth and development. Your body uses iron to make hemoglobin, a protein in red blood cells. Hemoglobin carries oxygen from the lungs to all parts of the body. Iron is also important for healthy muscles, bone marrow, and organ function. Your body also needs iron to make some hormones.

How do you get iron?

Iron is found naturally in many foods and is added to some fortified food products. Foods that are high in iron include:

Iron is available in supplements, either on its own or as part of many multivitamin/mineral supplements.

What causes low iron?

Most people in the United States get enough iron. The amount that you need each day depends on your age, your sex, and whether you consume a mostly plant-based diet.

Sometimes people can have trouble getting enough iron. There can be many causes, including blood loss, a poor diet, or a problem absorbing enough iron from foods. Those who are more likely to have low iron include people who:

What happens if you don't get enough iron?

If you have too little iron, you may develop iron-deficiency anemia. It may not cause symptoms at first, but over time, it can cause fatigue, shortness of breath, and trouble with memory and concentration. Treatment for low iron and iron-deficiency anemia is usually with iron supplements.

What happens if you get too much iron?

Too much iron can damage your body. For example, if you are healthy and take too many iron supplements, you may have symptoms such as constipation, nausea and vomiting, abdominal (belly) pain, and diarrhea. Higher iron levels can cause ulcers. Extremely high levels can lead to organ damage, coma, and death.

A disease called hemochromatosis can cause too much iron to build up in the body. Hemochromatosis is inherited (passed down through families). It is usually treated by removing blood (and iron) from your body on a regular basis.

National Institutes of Health, Office of Dietary Supplements

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