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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, microscopi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thalassemia
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] |
HBA2
Hemoglobin, alpha 2 also known as ''HBA2'' is a gene that in humans codes for the alpha globin chain of hemoglobin. Function The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes and pseudogenes: 5'- Hemoglobin subunit zeta, HBZ - HBZP1 - Mu hemoglobin, HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'. The HBA2 (α2) and Hemoglobin, alpha 1, HBA1 (α1) 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 Hemoglobin A, HbA, which in normal adult life accounts for about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute Hemoglobin A2, HbA-2, which with Fetal hemoglobin, HbF (fetal hemoglobin), composed of alpha and gamma chains, make up the remaining 3% of adult hemoglobin. Clinical significance Alpha-thala ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HBA1
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 Hemoglobin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemoglobin Electrophoresis
Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. The test can detect hemoglobin S, the form associated with sickle cell disease, as well as other abnormal types of hemoglobin, such as hemoglobin C. It can also be used to investigate thalassemias, which are disorders caused by defective hemoglobin production. Procedure The test uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis. After the sample has been treated to release the hemoglobin from the red cells, it is introduced into a porous gel (usually made of agarose or cellulose acetate) and subjected to an electrical field, most commonly in an alkaline medium. Different hemoglobins have different charges, and according to those charges, they move at different speeds in the gel and eventually form discrete bands (see electrophoretic migration patterns). A quality control sample containing hemoglobins A, F, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Diseases
:''This is an incomplete list, which may never be able to satisfy certain standards for completion.'' There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and erythrocytes, the major components of blood and the bone marrow. Anemias An anemia is a decrease in number of red blood cells (RBCs) or less than the normal quantity of hemoglobin in the blood.MedicineNet.com Definition of Anemia Last Editorial Review: 12/9/2000 Retrieved March 27, 2011''Merriam-Webster Dictionary'' anemia Retrieved on March 27, 2011 However, it can include decrea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemoglobin
Hemoglobin (haemoglobin, Hb or Hgb) is a protein containing iron that facilitates the transportation of oxygen in red blood cells. Almost all vertebrates contain hemoglobin, with the sole exception of the fish family Channichthyidae. Hemoglobin in the blood carries oxygen from the respiratory organs (lungs or gills) to the other tissues of the body, where it releases the oxygen to enable aerobic respiration which powers an animal's metabolism. A healthy human has 12to 20grams of hemoglobin in every 100mL of blood. Hemoglobin is a metalloprotein, a chromoprotein, and a globulin. In mammals, hemoglobin makes up about 96% of a red blood cell's dry matter, dry weight (excluding water), and around 35% of the total weight (including water). Hemoglobin has an oxygen-binding capacity of 1.34mL of O2 per gram, which increases the total blood oxygen capacity seventy-fold compared to dissolved oxygen in blood plasma alone. The mammalian hemoglobin molecule can bind and transport up to four ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lippincott Williams & Wilkins
Lippincott Williams & Wilkins (LWW) is an American imprint (trade name), imprint of the American Dutch publishing conglomerate Wolters Kluwer. It was established by the acquisition of Williams & Wilkins and its merger with J.B. Lippincott Company in 1998. Under the LWW brand, Wolters Kluwer, through its Health Division, publishes scientific, technical, and medical content such as textbooks, reference works, and over 275 scientific journals (most of which are medical or other public health journals). Publications are aimed at physicians, nurses, clinicians, and students. Overview LWW grew out of the gradual consolidation of various earlier independent publishers by Wolters Kluwer. Predecessor Wolters Samson acquired Raven Press of New York in 1986. Wolters Samson merged with Kluwer in 1987. The merged company bought J. B. Lippincott & Co. of Philadelphia in 1990; it merged Lippincott with the Raven Press to form Lippincott-Raven in 1995. In 1997 and 1998, Wolters Kluwer acquired Tho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fertilisation
Fertilisation or fertilization (see spelling differences), also known as generative fertilisation, syngamy and impregnation, is the fusion of gametes to give rise to a zygote and initiate its development into a new individual organism or offspring. While processes such as insemination or pollination, which happen before the fusion of gametes, are also sometimes informally referred to as fertilisation, these are technically separate processes. The cycle of fertilisation and development of new individuals is called sexual reproduction. During double fertilisation in angiosperms, the haploid male gamete combines with two haploid polar nuclei to form a triploid primary endosperm nucleus by the process of vegetative fertilisation. History In antiquity, Aristotle conceived the formation of new individuals through fusion of male and female fluids, with form and function emerging gradually, in a mode called by him as epigenetic. In 1784, Spallanzani established the need of in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Counseling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Egg Donation
Egg donation (also referred to as "oocyte donation") is the process by which a woman donates eggs to enable another woman to conceive as part of an assisted reproduction treatment or for biomedical research. For assisted reproduction purposes, egg donation typically involves in vitro fertilization technology, with the eggs being fertilized in the laboratory; more rarely, unfertilized eggs may be frozen and stored for later use. Egg donation is a third-party reproduction as part of assisted reproductive technology. In the United States, the American Society for Reproductive Medicine has issued guidelines for these procedures, and the Food and Drug Administration has a number of guidelines as well. There are boards in countries outside of the US which have the same regulations. However, egg donation agencies in the U.S. can choose whether to abide by the society's regulations or not. History The first child born from egg donation was reported in Australia in 1983. In July 1983, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sperm Donation
Sperm donation is the provision by a man of his sperm with the intention that it be used in the artificial insemination or other "fertility treatment" of one or more women who are not his sexual partners in order that they may become pregnant by him. Where pregnancies go to full term, the sperm donor will be the biological father of every baby born from his donations. The man is known as a sperm donor and the sperm he provides is known as "donor sperm" because the intention is that the man will give up all legal rights to any child produced from his sperm, and will not be the legal father. Sperm donation may also be known as "semen donation". Sperm donation should be distinguished from "shared parenthood" where the male who provides the sperm used to conceive a baby agrees to participate in the child's upbringing. Where a sperm donor provides his sperm in order for it to be used to father a child for a woman with whom he has little or no further contact, it is a form of third part ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
