Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for thalassemia.
Prenatal testing can be done around the 11th week of pregnancy using chorionic villi sampling (CVS). This involves removing a tiny piece of the placenta. Or, the fetus can be tested with amniocentesis around the 16th week of pregnancy. In this procedure, a needle is used to take a sample of the fluid surrounding the baby for testing.
Assisted reproductive therapy is also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may enable parents who have thalassemia or carry the trait to give birth to healthy babies. Embryos created in-vitro are tested for the thalassemia gene before being implanted into the mother, allowing only healthy embryos to be selected.
Alpha thalassemia is a blood disorder that reduces the production of
hemoglobin, the protein in red blood cells that carries oxygen to cells
throughout the body.
There are two types of alpha thalassemia, hemoglobin Bart hydrops
fetalis syndrome or Hb Bart syndrome (the more severe form) and HbH disease.
Alpha thalassemia also occurs frequently in people from Mediterranean
countries, North Africa, the Middle East, India, and Central Asia.
Alpha thalassemia typically results from deletions involving the HBA1
and HBA2 genes.
People who have alpha thalassemia trait can have
mild anemia. However,
many people with this type of thalassemia have no signs or symptoms.
Treatments for thalassemias depend on the type and severity of the
disorder.
What is alpha thalassemia?
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
What are the symptoms of alpha thalassemia?
In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.
Gallstones are stones that form when substances in the bile harden. Gallstones (formed in the gallbladder) can be as small as a grain of sand or as large as a golf ball. There can be just one large stone, hundreds of tiny stones, or any combination. The majority of gallstones do not cause symptoms.
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
An arrhythmia is an abnormal heart rhythm. With an arrhythmia, the heartbeats may be irregular or too slow (bradycardia), to rapid (tachycardia), or too early. When a single heartbeat occurs earlier than normal, it is called a prmature contraction.
Jaundice is a yellowish staining of the skin and whites of the eyes (sclerae) with bilirubin, the pigment found in bile. Jaundice can be an indicator of liver or gallbladder disease, or it may result from the rupture of red blood cells (hemolysis).
Heart attack happens when a blood clot completely obstructs a coronary
artery supplying blood to the heart muscle. A heart attack can cause chest pain, heart failure, and electrical
instability of the heart.
Malaria is an infectious disease transmitted by the bite of an infected Anopheles mosquito. Symptoms of malaria include chills, pain, fever, and sweating. Though mild cases of malaria can be treated with oral medication, severe cases require intravenous drug treatment and fluids.
The spleen enlarges if it is asked to do excessive work in filtering or manufacturing blood cells, if there is abnormal blood flow to it, or if it is invaded with abnormal cells or deposits. Symptoms of an enlarged spleen may include weakness and fatigue, easy bleeding, and poor white blood cell function. Treatment of an enlarged spleen is focused toward the cause of the splenomegaly. Surgery may be required to remove the spleen.
Heart rhythm disorders vary from minor palpitations, premature atrial contractions (PACs), premature ventricular contractions (PVCs), sinus tachycardia, and sinus brachycardia, to abnormal heart rhythms such as tachycardia, ventricular fibrillation, ventricular flutter, atrial fibrillation, atrial flutter, paroxysmal supraventricular tachycardia (PSVT), Wolf-White-Parkinson syndrome, brachycardia, or heart blocks. Treatment is dependant upon the type of heart rhythm disorder.
Heart disease (coronary artery disease) is caused by a buildup of cholesterol deposits in the coronary arteries. Risk factors for heart disease include smoking, high blood pressure, heredity, diabetes, peripheral artery disease, and obesity. Symptoms include chest pain and shortness of breath. There are a variety of tests used to diagnose coronary artery disease. Treatment includes life-style changes, medications, procedures, or surgery.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
G6PD deficiency (Glucose 6-phosphate dehydrogenase) leads to a condition called hemolytic anemia. Causes of G6PD deficiency is an abnormal gene located in the X-chromosome, therefore, it is more common in males. Hemolytic anemia caused by G6PD deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Pneumonia and other infections can also precipitate hemolytic anemia in individuals with G6PD deficiency. Treatment is generally discontinuing the drug or compound treating infection. Blood transfusions are necessary in some individuals.
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Heart failure is caused by many conditions including coronary artery disease, heart attack, cardiomyopathy, and conditions that overwork the heart. Symptoms of heart failure include congested lungs, fluid and water retention, dizziness, fatigue and weakness, and rapid or irregular heartbeats.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Hemoglobin is the protein molecule in red blood cells that carries oxygen from the lungs
to the body's tissues and returns carbon dioxide from the tissues to the lungs.
Hemoglobin is made up of four protein molecules (globulin
chains) that are connected together. The normal adult hemoglobin (Hbg) molecule
contains 2 alpha-globulin chains and 2 beta-globulin chains. In fetuses and
infants, there are only a few beta chains and the hemoglobin molecule is made up
of 2 alpha chains and 2 gamma chains. As the infant grows, the gamma chains are gradually replaced by beta chains.
Each globulin chain contains an important central
structure called the heme molecule. Embedded within the heme molecule is iron
that transports the oxygen and carbon dioxide in our blood. The iron contained in hemoglobin is also responsible for the red color of blood.
Hemoglobin also plays an important role in maintaining
the shape of the red...
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