Outline of Treatment with Beta Thalassemia

1. Which of the following anemias is caused by a failure of the bone marrow to produce red blood cells and may be congenital or acquired?

19. Following surgery for stomach cancer, Joe has been diagnosed with pernicious anemia. Which of the following is most likely the cause of this problem? A. he may not be absorbing vitamin B12 from his diet since the operation because of less intrinsic factor

Also known as normocytic anemia. This is the most frequent type of anemia most often happening to males over 85 years old. It is a common problem that occurs to men and women over 85 years old. Symptoms include and are caused by: a reduced production of normal-sized red blood cells even though presence of hemoglobin in the red blood cells is within the standard range; an increased production of HbS as is seen in sickle cell diseases; greater destruction and loss of red blood cells; an increase in plasma volume that is not compensated by anything else; a B2 (riboflavin) deficiency; and a B6 (pyridoxine) deficiency. (Brill & Baumgardner 2000).

Methemoglobinemia can be either acquired or congenital. When methemoglobinemia is acquired the mechanism that reduces methemoglobin is not able to keep up with the amount of oxidation that is occurring due to the various methods of acquiring methemoglobinemia [2]. There are two primary reasons for congenital methemoglobinemia; either there is a presence of an abnormal structure of the hemoglobin molecule, called hemoglobin M, or a deficiency in the enzymes cytochrome b5 methemoglobin reductase or glucose-6-phosphate dehydrogenase (G6PD) [5]. There are two main types of congenital methemoglobinemia, type I and type II. Type I methemoglobinemia is where the enzyme deficiency only affects the erythrocytes, and is easily

These tests also help nurses and physicians to see the fluctuations that take place from time of admission. The patient came in with low RBC’s which may be caused by her chronic kidney failure. Erythropoietin is excreted by the kidneys to gather more red blood cells. When the kidneys are not functioning, this may inhibit the excretion of erythropoietin, causing a low red blood cell count. She also came in with low hemoglobin levels which indicates anemia which also goes hand in hand with her low red blood cell count because hemoglobin is a protein located within red blood cells that carries oxygen from the lungs to the body and tissues. E.M. lastly appeared to have low hematocrit levels this again, is associated with the patient's anemia this is the proportion of blood that contains red blood cells, and in this patient's case is very

Hemoglobin is the main substance of the red blood cell. It helps red blood cells carry oxygen from the air in our lungs and releases the oxygen to all parts of the body. From this, normal red blood cells are flexible and round, moving easily through blood vessels.

also had a complete blood count, a blood test, as a baseline to assess his overall health. The complete blood count is “To evaluate numerous conditions involving red blood cells, white blood cells, and platelets. This test is also used to indicate inflammation, infection, and response to chemotherapy (Bladh et al., 2013).” T.A.’s abnormal blood results were as follows: RBC 3.3 10^6 cells/microL (low), hemoglobin 11.0 g/dL (low), hematocrit 33.2% (low), and mean corpuscular volume 99.7 fL (high). The normal range for RBC should be 3.8-5.81 10^6 cells/microL. Hemoglobin and hematocrit levels should be 12.6-17.4 g/dL and 36-52%. Normal mean corpuscular volume should be 79-103 fL. T.A.’s abnormal lab values indicate anemia. A decrease in red blood cell is related to nutrient deficiency such as a deficiency in iron or vitamins that are needed for red blood cell production and maturation. The decrease production or maturation of red blood cells lead to anemia in the patient. A low hemoglobin is associated with an overall decrease of red blood cell count and anemia caused by nutritional deficit of iron, vitamins, and folate. It can also be low due to a decrease level of erythropoietin caused by the AKI. Like hemoglobin, a low hematocrit is associated with an overall decrease of red blood cell count due to anemia, nutrition deficiency, and AKI. T.A.’s increased mean corpuscular volume is related to anemia caused by vitamin B12 or folate deficiency (Bladh et al.,

Under certain conditions, after hemoglobin S releases its oxygen, its molecules clump together forming rigid and elongated crystals. The crystals settle to one side of the cell, which collapses the

It gives the coefficient of variation of the red blood cell volume in percentage and thereby expresses the width of the volume curve. Traditionally, the measure is used in the differential diagnosis of anemia [9]. Because RDW becomes elevated earlier than other blood parameters, it is also helpful for early diagnosis of nutritional deficiency. Folic acid and B12 deficiencies will often present with high values of both MCV and RDW, while an iron deficiency anemia is characterized by a high RDW and low MCV. If blood cells are fragmented, agglutinated or dimorphic, this may also cause an elevation in RDW, and blood samples with elevated levels might need to be examined in a peripheral

Hispanics may have some biological variations resulting from genetic and environmental backgrounds. For example sickle cell disease is an inherited blood disease which can cause bouts of pain, damage to vital organs, and for some death in childhood or early adulthood. According to Osborne (2012), “To inherit the disease, a child must receive two sickle cell genes- one from each parent who carries the sickle cell gene. In the United States, most cases of sickle cell disease occur among blacks and Hispanics. About one in every 400 to 600 blacks inherits the sickle cell disease” (p.1). A blood test can identify people who have either sickle cell trait or the disease.

Haemoglobin determination, or haemoglobinometry, is the measurement of the concentration of haemoglobin in the blood. Haemoglobin's main function in the body is to carry oxygen from the lungs to the tissues and to assist in transporting carbon dioxide from the tissues to the lungs. The formation of haemoglobin takes place in the developing red cells located in bone marrow. Haemoglobin values are affected by age, sex, pregnancy, disease, and altitude.

The term genetic disorders describe problems caused in the genes by abnormalities of the genome (Genetic). These genetic disorders are typically rare and are passed on from parent to offspring by recessive or dominant alleles, commonly known as gene types. One of these many rare disorders is Down syndrome. There are three types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome. Down syndrome is an incurable congenital disorder arising from a chromosomal defect, which results in a multitude of physical and cognitive symptoms (Missing).

“Genes are paired- one copy of each gene pair is inherited from the mother and the other copy from the father.” If a genetic disorder is a shown trait through an individual the way it was inherited is through one of these two genes in the pair is abnormal and contains a extra gene. “Around 6,000 known genetic disorders are caused by inheriting an altered gene.” Down syndrome is one of these diseases with an extra affected chromosome (21). Down Syndrome affects physical growth and gives a person a disability in knowledge and development. It is an incurable disease and a individual must be born with it to occur. Cystic Fibrosis is another gene disorder it affects the lungs and digestive system and slowly decreases the effectiveness of its workings. Muscular dystrophy a disorder that can either start from birth or into late 40s depends on what type of genetic type of disease the person possesses. The disease slowly eats away at muscles and eventually leaving an individual struggling to move and slowly dying. PKU causes brain damage another genetic disorder can be detected from birth. Hereditary Hemochromatosis is apart of these genetic disorders and it is quite common “approximately 1 to 6 people in the United states”. This disease has no shown trait however it causes an iron overload in the body. The symptoms can be bad or not as effecting it is different with every person who has the disease. In all genetic disorders they aren’t common to all start from birth each can start from young to old and it is unknown to if a person has a disease until the symptoms

Haemoglobin is a protein molecule found in red blood cells (RBC). Its role in the body is to transport oxygen from the lungs to the body 's tissues and then returns carbon dioxide from the tissues back to the lungs. The transportation of oxygen is only possible when haemoglobin (Hb) within the RBC binds to oxygen. (Martini & Nath, 2006)

Beta-thalassemia is known as one of the most common autosomal recessive disorders around the world (Coa et al, 2010). This condition is seen the most in populations of Central Asia, Mediterranean, Far East Indian subcontinent and populations of African descent. When it comes to the highest incidence, the island of Sardinia in Italy (12%), Cyprus (14%) and South East Asia are amongst the highest (Coa et al, 2010). Population, which have high gene frequency of beta- thalassemia, are closely related to the high selective pressure of the parasite Plasmodium, this is because its distribution is quite similar to that of past or even present malaria endemia. Studies have also showed that carriers of Beta-Thalassemia are somehow immune to Plasmodium falciparum (Rachmilewitz et al, 2001).