Public Health Problem
When parents pass down their genetics to their offspring, they pass down eye color, height, blood type, etc. In some cases, unfortunately, parents also passed down genes for hereditary diseases like thalassemia. Thalassemia is a blood disorder passed down through families in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia (MedlinePlus, 2012). Hemoglobin is made up of Alpha globin and Beta globin, and thalassemia occurs when there is a mutation in a gene that helps control the production of one of these proteins.
There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia, each named for the respective protein that the mutated gene affects and include two forms, thalassemia major and thalassemia minor. The mutations that cause thalassemia disrupt normal production of hemoglobin, causing low hemoglobin levels and red blood cell destruction, causing anemia. There are four genes involved with the production of the alpha hemoglobin chain. In alpha-thalassemia, when one inherits one mutated gene, he or she will show no signs or symptoms of thalassemia, but he or she is a carrier and can pass it on to his or her children. When one inherits two mutated genes, his or her thalassemia signs and symptoms will be mild. This is called alpha-thalassemia minor. When one inherits three mutated genes, his or her symptoms will be moderate to severe, and this condition is also called hemoglobin H disease. When one inherits four mutated genes, the condition is called alpha-thalassemia major or hydrous fetalis, and this will cause the fetus to die before delivery ...
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Fucharoen, S., & Winichagoon, P. Prevention and Control of Thalassemia in Asia. Asian Biomedicine, 1, 2-5. Retrieved May 18, 2014, from http://abm.digitaljournals.org/index.php/abm/article/viewFile/91/10
Kremastinos, D. T., Farmakis, D., Aessopos, A., Hahalis, G., Hamodraka, E., Tsiapras, D., et al. Beta-Thalassemia Cardiomyopathy. Circulation: Heart Failure, 3, 451-458. Retrieved May 18, 2014, from http://circheartfailure.ahajournals.org/content/3/3/451.full#ack-1
Thalassemia. (2010, March 10). Retrieved May 18, 2014, from http://www.cdc.gov/ncbddd/thalassemia/index.html
Thalassemia. (2014, January 2). Retrieved May 18, 2014, from http://www.mayoclinic.org/diseases-conditions/thalassemia/basics/complications/con-20030316
Thalassemia. (2012, February 7). Retrieved May 18, 2014, from http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm
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
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
These causes will change the heart significantly. The pathophysiology of heart failure is described differently as: (1) an oedematous disorder, by means of which the deviations in renal hemodynamics and excretory ability lead to salt and water holding; (2) a hemodynamic disorder, considered by peripheral vasoconstriction and decreased cardiac output; (3) a neurohormonal disorder, mainly by stimulation of the renin-angiotensin-aldosterone system and adrenergic nervous system; (4) an inflammatory syndrome, related with amplified local and circulation pro-inflammatory cytokines; (5) a myocardial disease, started with an damage to the heart trailed by pathological ventricular transformation. In heart failure, the heart sustains either a sudden or longstanding structural injury. When damage occurs, sequences of firstly compensatory but consequently maladaptive mechanisms follow (Henry & Abraham, ).
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.
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
When people are being made, they receive genes passed down from multiple generations. Many of these genes can benefit the child being born, or can kill it. Through Meiosis the offspring receive two sets of genes, one from each parent. In human embryos, the child receives 23 chromosomes from each parent, equaling the 46 chromosomes in a regular body cell of a human. Parents can pass down traits for blonde hair, orange hair, brown eyes, blue eyes, and even the height for the offspring. Generations before the offspring can have diseases passed down to the offspring that can harm it. Most of the time evolution chooses against a disease, washing it out of the chromosomes, but in some cases certain diseases are still carried. Hemochromatosis is one of those diseases.
Hemoglobin SS happens because of a mutation in chromosome 11. Chromosome 11 contains the gene of hemoglobin-Beta. Hemoglobin (HBB) transports oxygen to your body parts like your lungs. Hemoglobin contains 2 alpha hemoglobin and 2 beta hemoglobin chains. Sickle cell anemia results from a point mutation. There is a change in the sixth amino acid in the beta hemoglobin chain from GLU to VAL. The Hemoglobin S gene is then resulted from this and is a rece...
Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.
left ventricular function and heart failure.” Clinical Investigative Medicine. 31.2 (2008): E90-E97. Web. 15 Feb. 2014.
ALBINISM Albinism. The word albinism refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. Recently a test has been developed to identify carriers of the gene for ty-neg albinism and for other types in which the tyrosianase enzyme does not function. The test uses a sample of blood to identify the gene for the tryrosinase enzymes by its code in DNA. The above test does not apply to to one type of albinism, called X-linked ocular albinism. For X-linked inheritance, the gene for albinism is located on an X chromosome. Females have two X chromosomes, while males only have one X and one Y chromosome. This X-linked albinism accurs exclusively in males. The gene is passed from mothers who carry it to their sons. The mothers have subtle eye changes which an ophthalmogist could identigy, but mothers usually have normal vision. For each son born to a mother who carries the gene, there is one in two chance of having X-linked ocular albinism. The description is a hereditary deficiency pigmentation. This could involve the entire body or part of the body. This is believed to be caused by an enzyme deficiency involving the metabolism of melanin during prenatal development. This can be inherited by an dominant or recessive trait. In complete albinism, there is lack of pigmentation in skin and hair, as well as in retinal and iris tissue; in incomplete albinism, skin and hair may vary from pale to normal; in ocular albinism, function may vary from norma to impaired. Impairments may involve the retina and iris. If a person has albinism then they usually have somewhere between 20/70 and 20/200 visual. Ty-Neg albinism or also called type 1A results from a genetic defect in an enzyme called tyrosinase. Tyrosinase helps the body to change the amino acid tyrosine into pigment. An amino acid is a building block of protien. Albinism is passed from parent to their kid through genes. For nearly all types of albinism both parent 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, there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance.
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.
As a recessive sex-linked disorder, hemophilia is more likely to occur in males than in females. This is explained by females having two X chromosomes, while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. As a result of females having two X chromosomes in their genetic makeup and hemophilia being rare, the chance of a female having two defective copies of the gene is very remote. Females are almost exclusively asymptomatic carriers of the disorder, meaning that they display no symptoms of hemophilia, but have the ability to carry the disease to their offspring. A mother whom is an asymptomatic carrier of hemophilia has a 50% chance of passing the faulty X chromosome to her daughter, and an affected father will always pass down the defective gene to his daughters (a son cannot inherit the defective gene from his father). The pattern of inheritance of hemophilia can be described as a criss-cross type, which is also seen in color blindness (another genetic disorder).
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.
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.
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.