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Beta Thalassemia: The Fatal Genetic Disease Wrecking Children’s and Adolescents’ Lives
Beta-thalassemia major (BT) is an astringent hemolytic anemia which has a single gene deformity. It has over 200 mutations; most of them are very uncommon, affecting approaching 20 different alleles in the chromosome. Approximately 3% of the world population carries this gene. As scary as the word look, beta thalassemia comes from the thalassa meaning sea and haima meaning blood. In layman terms, it is referred to as “Mediterranean” Anemia or “Cooley Anemia.” You may guess that the disease predominantly occur in the Middle Eastern Region or Southwestern Asia due to its common name, which is exactly right.
Beta thalassemia is a rare disease passed from a parent to children. There is a detailed mechanism for how this can occur. Basically once an offspring chromosome has a defect in both of its alleles that are a beta globin mutation; he or she is prone of suffering a severe form of beta thalassemia, which is referred to as beta thalassemia major. It would significantly affect how the child develops, thinks, and it is coupled with various ailments that may cause imbalances it the body system causing premature death at a very early age. According to the National Health of Rare Disease, an early symptom of this disease is a general feeling of ill health (malaise), weakness, pale complexion, upset stomach (dyspepsia), and heart palpitations. Affected infants may have a yellow appearance to their skin, eyes, and mucous membranes (jaundice); leg ulcers; an abnormally enlarged liver, hepatomegaly (April 2013, p 6). If the victim gets proper treatment, he or she might see their teenage years.
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...if it is not dealt with accordingly. A common treatment for an individual especially in North Africa who suffers from this ailment microcytic anemia mostly eats certain herbs for the idea to increase the iron supply to the body, however, it doesn’t work for every individual due to the level of severity of beta thalassemia, further medical treatment is mostly done with specific medical prescriptions, to increase the level of iron, others to increase the absorption of iron to form a normal red blood cell.
Works Cited
Stefano R, The role of ineffective erythropoiesis in non-transfusion dependent thalassemia.
[Internet]. April 2012 [cited 2013 Nov 17]; 26(0 1):S12–S15. Available from: http://ehis.ebscohost.com.ezproxy.uosc.edu/eds/detail?vid=3&sid=5567aaa2-a958-45d2-aa60e8b390862281%40sessionmgr11&hid=105&bdata=JnNpdGU9ZWRzLWxpdmU%3d#db=edselp&AN=S0268960X1270005X
• Jaundice. This is yellowing of the skin and eyes. In a newborn, jaundice is usually caused by a buildup of waste products in the blood due to the breakdown of red blood cells that the baby cannot get rid of fast
X-linked Agammaglobulinemia, or XLA for short, was the first immunodeficiency disease ever to be discovered. Ogden C. Bruton, the man who discovered it, was studying an eight-year-old boy in 1952 who had very confusing symptoms. He studied the boy for almost four years and was still confused by the randomness of his symptoms. The boy was getting many infections in these four years and Bruton could not figure out why until he decided to investigate the boy’s blood. He found that the boy was not producing the correct antibodies to fight off infection. After further research, Bruton was able to relate the symptoms back to the child’s genes. Long after Bruton had passed, the disease was studied in depth and found to be an X-linked genetic disorder effecting the antibody production in males. It was then named X-linked Agammaglobulinemia or, in memory of Ogden Bruton, Bruton’s X-linked Agammaglobulinemia.
...levels. Although some patients cannot tolerate B12, there are B12 injection preparations for this purpose.
The first scenario is a four-year-old little girl name, Lily. The patient is a Caucasian female who has symptoms of a blood disorder called (“Zelman, M. Ph.D., Tompary, E., Raymond, J. Ph. D., Holdaway, P. MA, & Mulvihill, M.L. Ph.D”, 2010) “Iron Deficiency”. Lily mother is
Sickle cell anemia is a disease that has to be inherited from both parents. Both parents have sickle cell trait, which means each parent has sickle hemoglobin and normal hemoglobin. So people with the sickle cell trait can pass the sickle cell gene to their children. Most families that come from Africa, South Central, and Central America are more common with sickle cell anemia. According to National Heart, Lung and Blood, it’s estimated that the sickle cell disease has affected 70,000-100,000 people mainly African Americans (National Institute of Health, 2012). Hispanic Americans also are common to having sickle cell anemia. According to National heart, Lung, and Blood Institute, statistics shows sickle cell anemia occurs in about 1 out of every 500 African American births and 1 out of 36,000 Hispanic American births (National Institute of Health, 2012). Signs of sickle cell anemia don’t show until after 4 months of age. Sickle cell anemia begins from ...
Sickle cell anemia is a hereditary disorder that mostly affects people of African ancestry, but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent. More than 70,000 Americans have sickle cell anemia. And about 2 million Americans - and one in 12 African Americans - have sickle cell trait (this means they carry one gene for the disease, but do not have the disease itself).
Albinism is a health disorder where individuals are born lacking the usual pigment in their bodies. It generally affects the color of the skin and the eye. Albinism is an uncommon illness and cannot be stop or cure. Once you have Albinism you will have it all your life. Being a infrequent condition, research still looking on how to possibly cure it. But, being a inherited condition, study does not guarantee there will be a treatment. The only way to prevent it is to check the parents for a recessive gene before having a baby.
There are many causes of anemia in the body. Some factors include genetics and deficiencies in the diet. Ms. A claims that for the past 10 – 12 years menorrhagia and dysmenorrheal have been a problem for her. Menorrhagia is abnormal and heavy menstrual bleeding during menstruation (Mayoclinic, 2013). Menorrhagia can deplete iron levels in the blood and increase the risk of an individual to have iron deficiency anemia. This is the cause of Ms. A’s anemia. Moreover, Ms. A says that she constantly takes aspirin especially in the summer to prevent stiffness in the joints. Aspirin affects and hinders the production of red blood cells (Mayoclinic, 2013). From the description of anemia given above, the lack of red blood cells, leads to low levels of iron and therefore low levels of hemoglobin which in turn affects the transportation of oxygen and thereby causing shortness of breath. Ms. A’s initial complains of shortness of breath and fatigue is the reason why she went to see the physician.
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.
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.
Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose – 1 – Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder.
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...
This type of inheritance is called autosomal recessive inheritance. If a parent has a child with albinism, it means the parent must carry the albinism gene. Until recently, unless a person has albinism or has a child with albinism, there was no way of knowing whether he or she carries the gene for albinism. Recently, a test has been developed to identify carriers of the gene for ty-negative albinism and for other types in which the tyrosinase enzyme does not function. The test uses a sample of blood to identify the gene for the tryrosinase enzyme by its DNA code. A similar test can identify type-negative or similar albinism in unborn babies, by aminiocentesis.
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...