FALCEMIA PDF

Thalassemia thal-uh-SEE-me-uh is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions.

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Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. Thalassemia minor is a less serious form of the disorder.

There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected. Each of these forms of thalassemia has different subtypes. The exact form you have will affect the severity of your symptoms and your outlook. Not everyone has visible symptoms of thalassemia.

Signs of the disorder also tend to show up later in childhood or adolescence. You inherit this genetic abnormality from your parents. If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. Some people with thalassemia minor do develop minor symptoms. If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.

Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease. The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.

Your doctor may instruct you not to take vitamins or supplements containing iron. Iron can build up in tissues, which can be potentially fatal. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body. Two genes, one from each parent, are inherited to make beta globin.

Thalassemia major is the most severe form of beta thalassemia. It develops when beta globin genes are missing. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:. Thalassemia intermedia is a less severe form. It develops because of alterations in both beta globin genes. In order to make alpha globin, you need to have four genes, two from each parent. Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes.

This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:. Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most babies with this condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin genes are altered or missing. Thalassemia can quickly lead to anemia. This condition is marked by a lack of oxygen being transported to tissues and organs.

Anemia can also cause you to pass out. Severe cases can lead to widespread organ damage, which can be fatal. Thalassemia is genetic in nature. To develop full thalassemia, both of your parents must be carriers of the disease. As a result, you will have two mutated genes. Either one or both of your parents must have the condition or be a carrier of it. This means that you inherit one mutated gene from either one of your parents. In alpha minor cases, two genes are missing.

In beta minor, one gene is missing. The condition is classified as either alpha or beta thalassemia minor. This means that, if you have children, they could develop some form of the gene mutation. Children can start exhibiting symptoms of thalassemia during their first two years of life.

Some of the most noticeable signs include:. When left untreated, this condition can lead to problems in the liver, heart, and spleen. Infections and heart failure are the most common life-threatening complications of thalassemia in children. Like adults, children with severe thalassemia need frequent blood transfusions to get rid of excess iron in the body.

A low-fat, plant-based diet is the best choice for most people, including those with thalassemia. However, you may need to limit iron-rich foods if you already have high iron levels in your blood. Fish and meats are rich in iron, so you may need to limit these in your diet.

You may also consider avoiding fortified cereals, breads, and juices. They contain high iron levels, too. Thalassemia can cause folic acid folate deficiencies. Naturally found in foods such as dark leafy greens and legumes, this B vitamin is essential for warding off the effects of high iron levels and protecting red blood cells. Be sure to discuss any dietary changes with your doctor ahead of time. However, there are ways you can manage the disease to help prevent complications.

In addition to ongoing medical care, the CDC recommends that all individuals with disorder protect themselves from infections by keeping up with the following vaccines:. In addition to a healthy diet , regular exercise can help manage your symptoms and lead to a more positive prognosis.

Moderate-intensity workouts are usually recommended, since heavy exercise can make your symptoms worse. Walking and bike riding are examples of moderate-intensity workouts. The key is to find something you enjoy and keep moving. Thalassemia is a serious illness that can lead to life-threatening complications when left untreated or undertreated. According to some estimates , people with beta thalassemia — the most severe form — typically die by age The shortened life span has to do with iron overload, which can eventually affect your organs.

Researchers are continuing to explore genetic testing as well as the possibility of gene therapy. The earlier thalassemia is detected, the sooner you can receive treatment. In the future, gene therapy could possibly reactivate hemoglobin and deactivate abnormal gene mutations in the body.

Thalassemia also brings up different concerns related to pregnancy. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties.

Your iron levels will need to be carefully monitored. Preexisting issues with major organs are also considered. Prenatal testing for thalassemia may be done at 11 and 16 weeks. This is done by taking fluid samples from either the placenta or the fetus, respectively. If you have thalassemia, your outlook depends on the type of the disease. People who have mild or minor forms of thalassemia can typically lead normal lives.

In severe cases, heart failure is a possibility. Other complications include liver disease, abnormal skeletal growth, and endocrine issues. Your doctor can give you more information about your outlook. They will also explain how your treatments can help improve your quality of life or increase your lifespan.

If you have one of these rashes, you may have anemia. Here's how to recognize anemia rash and what you can do to treat it. A hemoglobin electrophoresis test is a blood test your doctor may ask you to take to screen for blood disorders. Here's what you need to know. In microcytic anemia, your red blood cells are too small.

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Falcemia: Causes, Symptoms, Types, Complications, Diagnosis, Treatment and Prediction

Sickle cell disease SCD is a group of blood disorders typically inherited from a person's parents. The care of people with sickle cell disease may include infection prevention with vaccination and antibiotics , high fluid intake, folic acid supplementation, and pain medication. As of , about 4. Herrick in Beet and J.

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Everything You Need to Know About Thalassemia

Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. Thalassemia minor is a less serious form of the disorder.

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Sickle cell disease

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.

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Alpha thalassemia

Normally, red blood cells are disc-shaped, which gives them the flexibility to travel even through the smallest blood vessels. However, with this disease, the red blood cells have an abnormal crescent shape that resembles a sickle. Falcemia is an autosomal recessive condition. You need two copies of the gene to have the disease.

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