Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth. Read more: Alpha Thalassemia Article
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Anemia: Common Causes, Symptoms, Types, and Treatment
Anemia is a disease marked by low numbers of red blood cells. Low iron deficiency or underlying disease, like cancer, may be to...
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Exactly what is sickle cell anemia? Learn about sickle cell and other diseases by testing your IQ with the Blood and Bleeding...
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The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, menstruation, and medications. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Jaundice in Adults (Hyperbilirubinemia)
Jaundice or hyperbilirubinemia in adults is caused by an underlying disease or condition. Learn about when to worry about jaundice in adults, symptoms, treatment, causes, diagnosis, and prevention.
Enlarged Spleen (Splenomegaly) Symptoms, Signs, Causes,Treatment
An enlarged spleen or splenomegaly is generally caused by other diseases or conditions such as infections, cancers, blood disorders, or decreased blood flow. Symptoms of an enlarged spleen are often unnoticed. A feeling of fullness after eating a small amount of food and not being able to eat large meals may be a symptom of an enlarged spleen. Treatment for an enlarged spleen depends upon the cause.
Heart disease (coronary artery disease) occurs when plaque builds up in the coronary arteries, the vessels that supply blood to the heart. Heart disease can lead to heart attack. Risk factors for heart disease include: Smoking High blood pressure High cholesterol Diabetes Family history Obesity Angina, shortness of breath, and sweating are just a few symptoms that may indicate a heart attack. Treatment of heart disease involves control of heart disease risk factors through lifestyle changes, medications, and/or stenting or bypass surgery. Heart disease can be prevented by controlling heart disease risk factors.
Heart Attack (Myocardial Infarction)
A heart attack occurs when a blood clot completely obstructs a coronary artery supplying blood to the heart muscle. Learn about warning signs, causes, complications, risk factors, and treatment.
Arrhythmias (Heart Rhythm Disorders)
Heart rhythm disorders vary from minor palpitations, premature atrial contractions (PACs), premature ventricular contractions (PVCs), sinus tachycardia, and sinus bradycardia, to abnormal heart rhythms such as tachycardia, ventricular fibrillation, ventricular flutter, atrial fibrillation, atrial flutter, paroxysmal supraventricular tachycardia (PSVT), Wolf-Parkinson-White syndrome, brachycardia, or heart blocks. Treatment is dependent upon the type of heart rhythm disorder.
Heart failure (congestive) 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. There are two types of congestive heart failure, systolic or left-sided heart failure; and diastolic or right-sided heart failure. Treatment, prognosis, and life-expectancy for a person with congestive heart failure depends upon the stage of the disease.
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. Beta thalassemia major symptoms include pale skin, irritability, growth retardation, swelling of the abdomen, and jaundice. Beta thalassemia treatments include directly relieving the symptoms of the illness.
Sickle Cell Disease (Anemia)
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is caused by an inherited abnormal hemoglobin. Symptoms of sickle cell anemia 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.
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 signs or symptoms; however, when they do occur the primary sign is biliary colic. Symptoms of biliary colic are constant pain for 15 minutes to 4-5 hours, and it may vary in intensity; nausea, severe pain that does not worsen with movement; and pain beneath the sternum. Treatment of gallstones depends upon the patient and the clinical situation.
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.
Pregnancy Planning (Tips)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes taking prenatal vitamins, eating healthy for you and your baby, disease prevention (for both parents and baby) to prevent birth defects and infections, avoiding certain medications that may be harmful to your baby, how much weight gain is healthy exercise safety and pregnancy, travel during pregnancy.
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 premature contraction.
Newborn Jaundice (Neonatal Jaundice)
Jaundice in newborns and babies (neonatal jaundice) usually occurs because of a normal increase in red blood cell breakdown and the fact that their immature livers are not efficient at removing bilirubin from the bloodstream. Symptoms of jaundice are fever, poor feeding, and looking ill. Newborn jaundice is very common and is caused because the newborn's liver isn’t mature enough to remove bilirubin from the blood. Treatment of jaundice in newborns includes phototherapy, tanning booths, and other treatments.
Malaria is a disease that is spread by the bite of an infected Anopheles mosquito. Malaria symptoms include fever, chills, nausea, vomiting, and body aches. Treatment involves supportive care and antibiotics.
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.
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.
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