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What causes thalassemia in mutations
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Thalassemia is a blood disorder transferred through families. It occurs when the body makes less hemoglobin than needed or an unusual form of hemoglobin. Hemoglobin is the protein in red blood cells that carry oxygen. The disorder makes an excessive amount of destruction of red blood cells. This eventually leads to anemia.
There are two main types of thalassemia. The first one is Alpha thalassemia. This occurs when a gene or genes related to the alpha globin protein are missing or mutated. It happens mostly in Southeast Asia, the Middle East, China, and in those of African descent. If one gene is missing or damaged: Your red blood cells might be smaller than normal. You will have no symptoms and you will not need treatment. If two genes are missing or damaged, you will have very mild anemia that will typically not need treatment. This is called alpha thalassemia minor or alpha thalassemia trait. If three genes are missing: You will have mild to moderately severe anemia. This is called hemoglobin H disease. If it is severe, you may need blood transfusions.
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...
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...ver problems. It may also make the person more likely to get infections. Blood transfusions may help control some symptoms. But this could lead to having too much iron, as it stated before. Too much iron could damage the heart, liver, and endocrine system.
Another way to treat major thalassemia is to have a stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be used to treat severe thalassemia in select cases. Prior to a stem cell transplant, you receive very high doses of drugs or radiation to destroy your diseased bone marrow. Then you receive infusions of stem cells from a compatible donor. This has serious risks though. For that reason it is only used if it is a very severe case of thalassemia or if there is a very compatible donor.
Thalassemia cannot be prevented most of the time since it is passed down through families.
Vitamin B12 deficiency limits selenium methylation and excretion resulting in higher tissue selenium levels and subsequent toxicity. It occurs in people whose digestive systems do not adequately absorb the vitamin from the foods they eat. Vegetarians who eat eggs and milk products are the most at risk because, on average, they consume less than half the adult vitamin B12 Recommended Dietary Allowance (RDA) while strict vegans (who don't eat any animal products, including meat, eggs, or milk) are at an even greater risk. Vitamin B12 is important since it works with the vitamin folate to make the body’s genetic material and help keep levels of the amino acid homocysteine in check which helps to decrease heart disease risk. It is also essential in the production of red blood cells which carry oxygen through the blood to the body’s tissues. Life Extension gives offers some of selenium supplements. Babies who are born of parents with low selenium and vitamin B12 rich foods are at risk of anaemia.
If this happens, their immune system will develop antibodies against factor VIII. These antibodies will inhibit the ability of the factor to work in the clotting process. The higher the antibody or inhibitor level, the more factor VIII replacement therapy it takes to overcome the inhibition and produce clotting. This can complicate the treatment of a bleed. The good news is that there are different types of therapies available to successfully treat most individuals who develop inhibitors.
Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.
Sickle cell anemia is a blood disorder that affects hemoglobin (pronounced: hee-muh-glow-bin), a protein found in red blood cells that helps carry oxygen throughout the body.
Beta thalassemia is placed under the group of inherited blood disorders that can be transferred from both the genes of parents into their children. Mutations in HBB gene (Haemoglobin subunit beta) provides the instructions to beta-globin which is a subunit haemoglobin consisting of 4 protein subunits. A lack of Beta-globin can lead to a reduction of Haemoglobin and by not having an enough Haemoglobin, blood cells won’t produce normally and cause a shortage of mature blood cells which can eventually lead Anemia
From generation to generation diabetes has continued to claim lives on my mothers side of the family. From recent memory my great grandmother, aunt, and three cousins have had diabetes. Once a trait like diabetes enters your family it is passed down through genetics but it is also not guaranteed that all your family members will get it. You may be asking yourself what exactly diabetes is, what it does to your body and is their a cure? This disease affects us in many ways than one, as I will introduce to you.
Albinism is a genetic disorder that is caused by the lack of pigments. Sometimes it only affects the eye which is called ocular albinism. You can receive albinism from your genetics. You can be an albino in your eyes, skin or hair. It affects people of all races and all around the world. Studies show one in 20,000 people worldwide have some form of albinism. Certain forms of albinism are more common in some populations. Most common form of albinism is OCAZ and is found in one in 36, 0000 Caucasians in the United States. There are four types of albinism; type 1 is characterized by white hair, very pale skin, and light colored eyes. Type 2 is less severe their skin is usually a creamy white color and their hair could be a light yellow, blonde or light brown. Type 3 has a form of albinism called “rufous oculocutaneous albinism” this usually affects dark-skinned people. They have reddish-brown skin, ginger or red hair and hazel or brown eyes. Type 3 has milder vision problems. Type 4 has the same symptoms similar to type 2. Types 1 and 2 are the most common forms; types 3 and 4 are not as common.
Sickle cell anemia is a genetic disorder that erythrocytes tolerate sickle shape red blood cells. These red blood cells are easy to damage, which leads to hemolytic anemia. Abnormal hemoglobin is fragile to low oxygen conditions within the body. It loses the blood solubility, and then forms thick strands called polymers. This gives the abnormal shape, called Sickle cell.
Sickle cell anemia is the most common in hemoglobin mutation diseases due to mutation to beta-blobin gene. The substitution of valine for glutamate at position 6 of the beta chains paces a nonpolar residue on the outside of hemoglobin S. the oxygen affinity and allosteric properties of hemoglubin are virtually unaffected by this changes. However, this alternation markedly reduces the solubility of the deoxygenated but not the oxygenated form of hemoglobin. Thus, sicking occurs when there is a high concentration of the deoxygenated form of hemoglobin.
Iron is a mineral that is found the in hemoglobin of the Red Blood Cells. It facilitates in the transport of oxygen all over the body. Without this mineral, oxygen cannot be carried to its full capacity. 1 out of 10 women and small children have iron deficiencies. Lacking iron causes lethargy and a weakened immune system. Children who do not have an adequate intake of iron put themselves at risk for intellectual developmental problems. However, an iron deficient person is not necessarily anemic. 7.8 million women are iron deficient, while only 3.3 million women are anemic (http://www.mayohealth.org/mayo/9704/iron_def.htm). When the deficiency becomes so severe that the circulating Red Blood Count and the minerals Ht, Hg, and Hem drop below normal, anemia occurs (See Figure 1). The hormone androgen causes men and women to have different normal values of the hemogram (http://www.medstudents.com.br/hemat/hemat4.htm). Low ferritin (iron storage molecule) and high TIBC (tota...
Thalassemia is basically a name for similar groups of inherited blood diseases that involve missing or abnormal genes regarding the protein in hemoglobin which is the red blood cells that carry oxygen throughout the body. I will discuss the different types of Thalassemia, how Thalassemia is diagnosed, and the treatments available. I will also discuss the complications and side effects of the treatments, the disease’s causes and effects, and how it is more dominant in some parts of the world than others. Thalassemia is a blood disorder which means the body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen throughout the body and having less hemoglobin leads to anemia. Alpha globin and beta globin are the proteins that create Hemoglobin. A defect in the gene that helps control production of alpha or beta goblin leads to Thalassemia. Fewer blood cells leads to anemia, which is the common culprit in Thalassemia.
Vitamin B12 is an essential nutrient that plays an important role in DNA synthesis and nerve function. It is contained in high amounts in animal derived foods such as milk, eggs, and meat. The vitamin is stored in the liver long-term. Individuals with vegetarian, vegan, or other forms of restricted diet may develop the condition after approximately 6 months as liver stores of vitamin B12 become depleted. Some individuals develop the condition due to autoimmune destruction of cells in the stomach that produce intrinsic factor. Intrinsic factor is necessary for proper absorption of vitamin B12 in the small intestine.
Methemoglobinemia for the most part is easily treated, as long as it is diagnosed properly on time. Early diagnosis is necessary because high levels of methemoglobin in the blood can be lethal. To prevent patients and hospitals from costly unnecessary laboratory tests, a CO-oximeter should be present in the medical laboratory. Couples that are consanguineous and are considering having children should get genetic counseling. People, especially the elderly, the young, and the immunosuppressed, should be aware of certain chemicals or medications that can cause the acquired form of the disease. Early detection of methemoglobinemia is the key to a favorable outcome.
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
The genetic defect that causes albinism in other types of albinism is unknown, but it is speculated that it involves other enzymes used to make pigment. Albinism is passed from parents to their children through genes. For nearly all types of albinism, both parents must carry an albinism gene to have a child with albinism. Parents may have normal pigmentation, but still carry the gene. When both parents carry the gene, and neither parent has albinism, there is a one in four chance at each pregnancy that the baby will be born with albinism.