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Thalassaemia
Thalassemias are a group of 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 tiredness, pallor, bone problems, an 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 alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the 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 globin are faulty. Diagnosis is typically by blood tests including a complete blood count, special ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha Thalassemia
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Symptoms depend on the extent to which hemoglobin is deficient, and include anemia, pallor, tiredness, enlargement of the spleen, iron overload, abnormal bone structure, jaundice, and gallstones. In severe cases death ensues, often in infancy, or death of the unborn fetus. The disease is characterised by reduced production of the alpha-globin component of hemoglobin, caused by inherited mutations affecting the genes ''HBA1'' and ''HBA2.'' This causes reduced levels of hemoglobin leading to anemia, while the accumulation of surplus beta-globin, the other structural component of hemoglobin, damages red blood cells and shortens their life. Diagnosis is by checking the medical history of near relatives, microscopic ex ... [...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] |
Hemoglobin Subunit Alpha
Hemoglobin subunit alpha, Hemoglobin, alpha 1, is a hemoglobin protein that in humans is encoded by the ''HBA1'' gene. Gene The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Protein Two alpha chains plus two beta chains constitute HbA, which in normal adult life accounts for about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF), composed of alpha and gamma chains, make up the remaining 3% of adult hemoglobin. Clinical significance Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ... [...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] |
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] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...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] |
Iron Chelation
Chelation therapy is a medical procedure that involves the administration of chelating agents to remove heavy metals from the body. Chelation therapy has a long history of use in clinical toxicology and remains in use for some very specific medical treatments, although it is administered under very careful medical supervision due to various inherent risks, including the mobilization of mercury and other metals through the brain and other parts of the body by the use of weak chelating agents that unbind with metals before elimination, exacerbating existing damage. To avoid mobilization, some practitioners of chelation use strong chelators, such as selenium, taken at low doses over a long period of time. Chelation therapy also has a history of fraudulent use in Alternative medicine, to treat claimed effects of heavy-metal exposure on problems as disparate as heart disease, cancer and autism. Chelation therapy must be administered with care as it has a number of possible side effects ... [...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] |
Anemia
Anemia (also spelt anaemia in British English) is a blood disorder in which the blood has a reduced ability to carry oxygen. This can be due to a lower than normal number of red blood cells, a reduction in the amount of hemoglobin available for oxygen transport, or abnormalities in hemoglobin that impair its function. The name is derived . When anemia comes on slowly, the symptoms are often vague, such as Fatigue, tiredness, weakness, shortness of breath, headaches, and a Exercise intolerance, reduced ability to exercise. When anemia is acute, symptoms may include confusion, lightheadedness, feeling like one is going to pass out, Syncope (medicine), loss of consciousness, and polydipsia, increased thirst. Anemia must be significant before a person becomes noticeably Pallor, pale. Additional symptoms may occur depending on the underlying cause. Anemia can be temporary or long term and can range from mild to severe. Anemia can be caused by blood loss, decreased red blood cel ... [...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] |
