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Thalassaemias
Thalassemias are a group of Genetic disorder, inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include fatigue (medical), tiredness, pallor, bone problems, an splenomegaly, enlarged spleen, jaundice, pulmonary hypertension, and dark urine. A child's growth and development may be slower than normal. Thalassemias are genetic disorders. Alpha thalassemia is caused by deficient production of the Hemoglobin subunit alpha, alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the Hemoglobin subunit beta, beta globin component. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Delta-beta Thalassemia
Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of hemoglobin subunit delta and hemoglobin subunit beta and raised levels of hemoglobin subunit gamma. It is an autosomal recessive disorder. Signs and symptoms An individual with delta-beta thalassemia is usually asymptomatic, however microcytosis can occur where the red blood cells are abnormally small. Mechanism Delta-beta thalassemia is autosomal recessive disorder, which means both parents are affected and two copies of the gene must be present. A carrier gets a normal gene to produce hemoglobin A, from one parent and the other parent supplies a gene which makes no hemoglobin A. Delta-beta thalassemia is considered rare. Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes sequences and only gamma-globin and HbF are formed. Rarely, non-deletional forms have been reported. When two delta0 mutations are inherited, no hemoglobin A2 (alpha2, delta2) a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pulmonary Hypertension
Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the pulmonary artery, arteries of the lungs. Symptoms include dypsnea, shortness of breath, Syncope (medicine), fainting, tiredness, chest pain, pedal edema, swelling of the legs, and a fast heartbeat. The condition may make it difficult to exercise. Onset is typically gradual. According to the definition at the 6th World Symposium of Pulmonary Hypertension in 2018, a patient is deemed to have pulmonary hypertension if the pulmonary mean arterial pressure is greater than 20mmHg at rest, revised down from a purely arbitrary 25mmHg, and pulmonary vascular resistance (PVR) greater than 3 Wood units. The cause is often unknown. Risk factors include a family history, prior pulmonary embolism (blood clots in the lungs), HIV/AIDS, sickle cell disease, cocaine use, chronic obstructive pulmonary disease, sleep apnea, living at high altitudes, and problems with the mitral valve. The underlying mechanism typ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Disease
Cardiovascular disease (CVD) is any disease involving the heart or blood vessels. CVDs constitute a class of diseases that includes: coronary artery diseases (e.g. angina pectoris, angina, myocardial infarction, heart attack), heart failure, hypertensive heart disease, rheumatic heart disease, cardiomyopathy, arrhythmia, congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, Thrombosis, thromboembolic disease, and venous thrombosis. The underlying mechanisms vary depending on the disease. It is estimated that dietary risk factors are associated with 53% of CVD deaths. Coronary artery disease, stroke, and peripheral artery disease involve atherosclerosis. This may be caused by hypertension, high blood pressure, tobacco smoking, smoking, diabetes mellitus, lack of physical exercise, exercise, obesity, hypercholesterolaemia, high blood cholesterol, poor diet, excessive alcoholic beverage, alcohol consumption, and poor sleep, amo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iron Overload
Iron overload is the abnormal and increased accumulation of total iron in the body, leading to organ damage. The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction. Iron overload is often ''primary'' (i.e hereditary haemochromatosis, aceruloplasminemia) but may also be ''secondary'' to other causes (i.e. transfusional iron overload). Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints. People with iron overload classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. However, due to earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly. Signs and symptoms Organs most commonly affected by hemochromatosis include the liver, heart, and endocrine glands. Hemochromatosis may present with the following clinical syndromes: * liver: chronic liver di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemoglobin H Disease
Hemoglobin H disease, also called α-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of α-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. Pathophysiology Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal component of the hemoglobin. The disease occurs when the α-globin gene expression is reduced to less than 30% of the normal expression. In a healthy individual there are four copies of the gene which encode the α-globin protein. α-globin is encoded by the HBA1 (2 copies) and HBA2 (2 copies) genes. The genotype of healthy individuals with four normal copies of α-globin is annotated as αα/αα. In individuals with deletional HbH disease, there is deletion of three of the four α-globin alleles, which is annotated as --/-α. Non-deletional HbH disease refers to a decreased α-globin t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Transfusion
Blood transfusion is the process of transferring blood products into a person's Circulatory system, circulation intravenously. Transfusions are used for various medical conditions to replace lost components of the blood. Early transfusions used whole blood, but modern medical practice commonly uses only components of the blood, such as red blood cells, blood plasma, plasma, platelets, and other clotting factors. White blood cells are transfused only in very rare circumstances, since granulocyte transfusion has limited applications. Whole blood has come back into use in the Major trauma, trauma setting. Red blood cells (RBC) contain hemoglobin and supply the Cell (biology), cells of the body with oxygen. White blood cells are not commonly used during transfusions, but they are part of the immune system and also fight infections. Plasma is the "yellowish" liquid part of blood, which acts as a buffer and contains proteins and other important substances needed for the body's overall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prenatal Testing
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complete Blood Count
A complete blood count (CBC), also known as a full blood count (FBC) or full haemogram (FHG), is a set of medical laboratory tests that provide cytometry, information about the cells in a person's blood. The CBC indicates the counts of white blood cells, red blood cells and platelets, the concentration of hemoglobin, and the hematocrit (the volume percentage of red blood cells). The red blood cell indices, which indicate the average size and hemoglobin content of red blood cells, are also reported, and a white blood cell differential, which counts the different types of white blood cells, may be included. The CBC is often carried out as part of a medical assessment and can be used to monitor health or diagnose diseases. The results are interpreted by comparing them to Reference ranges for blood tests, reference ranges, which vary with sex and age. Conditions like anemia and thrombocytopenia are defined by abnormal complete blood count results. The red blood cell indices can provi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta Globin
Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the ''HBB'' gene, which along with alpha globin ( HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains. β-globin is encoded by the ''HBB'' gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria. At least 50 disease-causing mutations in this gene have been discovered. Gene locus Beta-globin is produced by the gene ''HBB'' which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.4. Expression of beta gl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha Globin
Alpha (uppercase , lowercase ) is the first letter of the Greek alphabet. In the system of Greek numerals, it has a value of one. Alpha is derived from the Phoenician letter ''aleph'' , whose name comes from the West Semitic word for ' ox'. Letters that arose from alpha include the Latin letter and the Cyrillic letter . Uses Greek In Ancient Greek, alpha was pronounced and could be either phonemically long ( ː or short ( . Where there is ambiguity, long and short alpha are sometimes written with a macron and breve today: . * = ' "a time" * = ' "tongue" In Modern Greek, vowel length has been lost, and all instances of alpha simply represent the open front unrounded vowel . In the polytonic orthography of Greek, alpha, like other vowel letters, can occur with several diacritic marks: any of three accent symbols (), and either of two breathing marks (), as well as combinations of these. It can also combine with the iota subscript (). Greek grammar In the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemoglobin Subunit Beta
Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the ''HBB'' gene, which along with alpha globin ( HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains. β-globin is encoded by the ''HBB'' gene on human chromosome 11. Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria. At least 50 disease-causing mutations in this gene have been discovered. Gene locus Beta-globin is produced by the gene ''HBB'' which is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.4. Expression of beta gl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta Thalassemia
Beta-thalassemia (β-thalassemia) is an genetic disorder, inherited hemoglobinopathy, blood disorder, a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduced or absent synthesis of the HBB, beta chains of hemoglobin, the molecule that carries oxygen in the blood. Symptoms depend on the extent to which hemoglobin is deficient, and include anemia, pallor, Fatigue, tiredness, Splenomegaly, enlargement of the spleen, jaundice, and Gallstone, gallstones. In severe cases death ensues. Beta thalassemia occurs due to a mutation of the HBB gene leading to deficient production of the hemoglobin subunit Hemoglobin subunit beta, beta-globin; the severity of the disease depends on the nature of the mutation, and whether or not the mutation is Zygosity, homozygous. The body's inability to construct beta-globin leads to reduced or zero production of Hemoglobin A, adult hemoglobin thus causing anemia. The ot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
