The following are health and medical definitions of terms that appear in the Alpha Thalassemia article.
Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).
Allele: An alternative form of a gene. One of the different forms of a gene that can exist at a single locus (spot on a chromosome). Also one of the different forms of any segment of a chromosome.
Alpha thalassemia: A blood disorder, thalassemia is not one disease but rather a group of disorders that have a single feature in common: they all have a genetic defect in the production of hemoglobin, the protein that enables red blood cells to carry oxygen. See the entire definition of Alpha thalassemia
Anemia: 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. See the entire definition of Anemia
Blood pressure: The blood pressure is the pressure of the blood within the arteries. It is produced primarily by the contraction of the heart muscle. It's measurement is recorded by two numbers. The first (systolic pressure) is measured after the heart contracts and is highest. The second (diastolic pressure) is measured before the heart contracts and lowest. A blood pressure cuff is used to measure the pressure. Elevation of blood pressure is called "hypertension".
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
Enlarged liver: A liver that is greater in size than normal. Enlarged liver is also known as hepatomegaly. Enlargement of the liver can occur in a wide variety of diseases. Examples include congestive heart failure, congenital diseases of metabolism, infections, tumors, and alcohol use.
Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is considered the father of radiology." (3) To produce offspring as a male. (4) To provide paternal protection and guidance to children.
Fatigue: A condition characterized by a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a feeling of weariness and tiredness. Fatigue can be acute and come on suddenly or chronic and persist. See the entire definition of Fatigue
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest. See the entire definition of Heart
Hemoglobin: The oxygen-carrying pigment and predominant protein in the red blood cells. Hemoglobin forms an unstable, reversible bond with oxygen. In its oxygenated state it is called oxyhemoglobin and is bright red. In the reduced state it is called deoxyhemoglobin and is purple-blue. See the entire definition of Hemoglobin
Hepatosplenomegaly: Enlargement of the liver and spleen. The word "hepatosplenomegaly" is compounded from Greek roots: "hepato-" from "hepatikos" (of the liver) + "spleno" from "splen" (the spleen) + "megaly" from "megas" (big or great) = bigness of the liver and spleen. See the entire definition of Hepatosplenomegaly
High blood pressure: Also known as hypertension, high blood pressure is, by definition, a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90. See the entire definition of High blood pressure
Hydrops fetalis: Gross edema (swelling), usually with anemia, of the fetus. It can be due to Rh blood group incompatibility, in which antibodies crossing the placenta from the mother destroy the red blood cells of the fetus. It can also be caused by a lethal form of the genetic disorder thalassemia, alpha thalassemia, in which alpha-chain polypeptides needed to make fetal or adult hemoglobin are not produced. See also Rh incompatibility; thalassemia, alpha.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Jaundice: Yellow staining of the skin and sclerae (the whites of the eyes) by abnormally high blood levels of the bile pigment bilirubin. The yellowing extends to other tissues and body fluids. Jaundice was once called the "morbus regius" (the regal disease) in the belief that only the touch of a king could cure it. See the entire definition of Jaundice
Jaw: The bones below the mouth (the mandible) and the bone above the mouth just above the mouth (the maxilla). The word jaw comes from the Anglo-Saxon ceowan meaning to chew.
Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.
Oxygen: A colorless, odorless and tasteless gas that makes up about 20% of the air we breathe (and at least half the weight of the entire solid crust of the earth) and which combines with most of the other elements to form oxides. Oxygen is essential to human, animal and plant life. See the entire definition of Oxygen
Preeclampsia: A condition in pregnancy characterized by abrupt hypertension (a sharp rise in blood pressure), albuminuria (leakage of large amounts of the protein albumin into the urine) and edema (swelling) of the hands, feet, and face. Preeclampsia is the most common complication of pregnancy. It affects about 5% of pregnancies. It occurs in the third trimester (the last third) of pregnancy. See the entire definition of Preeclampsia
Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long. See the entire definition of Pregnancy
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Protein
Red blood cells: The blood cells that carry oxygen. Red cells contain hemoglobin and it is the hemoglobin which permits them to transport oxygen (and carbon dioxide). Hemoglobin, aside from being a transport molecule, is a pigment. It gives the cells their red color (and their name). See the entire definition of Red blood cells
Spleen: An organ located in the upper left part of the abdomen near the stomach. The spleen produces lymphocytes; it is the largest lymphatic organ in the body. The spleen also filters the blood, serves as a major reservoir for blood and destroys blood cells that are aged.
Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease. See the entire definition of Syndrome
Thalassemia: Not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of hemoglobin is made up of 4 polypeptide chains (usually 2 chains of one type and 2 chains of another type of chain). In thalassemia, there is a mutation (change) in one of the types of globin chains. Depending upon which globin chain is affected, the mutation typically leads to underproduction (or absence) of that globin chain, a deficiency of hemoglobin, and anemia.
Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis. See the entire definition of Trait
Urinary: Having to do with the kidneys, ureters, and bladder. The urinary system represents the functional and anatomic aspects of the kidneys, ureters, and bladder.
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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