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Case study conclusion for beta thalassemia
Case study conclusion for beta thalassemia
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Orofacial characteristics of β –thalassemia major patients among the UAE population
Introduction
Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The name thalassemia is derived from a combination of two Greek words: thalassa meaning the sea, i.e. the Mediterranean, and anaemia (“weak blood”). Therefore it is also known as Mediterranean anemia. Another name for beta-thalassemia is Cooley’s anemia, named after Prof. Thomas Cooley, a pediatrician in the USA who first described the clinical characteristics of this disorder in patients of Italian origin in 1925.
There are three types of beta thalassemia: beta thalassemia major which is the most severe and patients require blood transfusions to survive, beta thalassemia intermedia in which patients have a better prognosis than the previous and beta thalassemia minor which is found in heterozygous individuals and there are no clinical manifestations.
Alpha-chain production is normal however, since these chains lack beta-chains with which to bind, an intraerythrocytic accumulation of alpha-chains results; the latter are insoluble and thus tend to precipitate, forming intracellular inclusions that deform the structure of the erythrocyte and lead to its premature destruction within the bone marrow and spleen. The result of this phenomenon is therefore ineffective erythropoiesis, which triggers an increase in erythropoietin levels with a rise in the output of erythoid cells and erythroblasts associated with bone expansion and resulting in typical facial deformities with alterations of the stomatognathic structures.
8% of UAE nationals are carriers of the B-thalassemia gene. Due to its high prevalence in the UAE, it i...
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...ble to use these characteristics for diagnosis.
Acknowledgements:
References:
[1] Salehi MR, Farhud DD, Tohidast TJ and Sahebjamee M. Prevalence of orofacial complications in Iranian patients with β-thalassemia major. Iran J Public Health 2007; 36: 43-6.
[2] A. AL-WAHADNI, M. A. QUDEIMAT & M. AL-OMARI Dental arch morphological and dimensional characteristics in Jordanian children and young adults with -thalassaemia major International Journal of Paediatric Dentistry 2005; 15: 98–104
[5] P Raju, M Chaudhary, V Wadhwan. Evaluation of Oral manifestations as correlates in Thalassemia major cases in current dental practice in Central part of India. The Internet Journal of Hematology. 2008 Volume 6 Number 2.
[6] Pusaksrikit S, Isarangkura P, Hathirat P. Occlusion of the teeth in thalassemic patients. Birth Defects Original Article Series 1987; 23: 429–433.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Most breaks happen before puberty.Some of the cases in regards to this careful sort present typical or close ordinary stature. Additionally some different cases may demonstrate different qualities, for example, free joints ,muscle weakness,sclera (whites of the eyes) for the most part have a blue, purple, or dark tint,triangular face.Tendency toward spinal ebb and flow might be the reason for the bone disfigurement missing or insignificant bended back shape, fragile teeth is likewise conceivable because of the shortcoming of all .
When red blood cells start out, they are shaped like flat discs. Over time, when passing through the spleen, pieces of the membrane are removed, causing the red blood cells to become round in shape, hence the term Spherocytosis (Seattle Childrens). When red blood cells enter the spleen, the cells undergo hemolysis. Hemolysis in hereditary spherocytosis results in the interplay of an intact spleen and an intrinsic membrane protein defect (Medscape). The breakdown of red blood cells is called hemolytic anemia (Wint Carmella).
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
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 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.
Race can be used as a way to link a person to their ancestry, which can lead doctors to critical information that can give their patient the best treatment they can. With all of the advances in medicine there is still no way to determine a patient’s specific genetics and be able to treat each person with respect to their unique genes. Doctors narrow down possible risk factors and medication interactions by categorizing patients, by gender, age, and race. Race is a general way f...
This article is supported by Alfarabi College for Dentistry and Nursing in Alryiadh, Saudi Arabia.
According to the Centers for Disease Control and Prevention (CDC), sickle cell disease (SCD) affects millions of people worldwide and predominantly affects descendants from sub-Saharan Africa, South and Central America, the Caribbean, Saudi Arabia, India; and the Mediterranean. Sickle cell disease is a genetic disorder of the red blood cells where the red blood cells comprises of predominantly hemoglobin S, an abnormal type of hemoglobin (2011). Two most common types of sickle cell disease seen in the clinical setting are Sickle Cell Anemia (SS) and Sickle-Hemoglobin C Disease (SC) (Sickle Cell Disease Association of America, 2014, para.1).
Anemia is a disease that is commonly seen in veterinary medicine. This disease can be described as having low amounts of red blood cells and a reduced amount of hemoglobin in the circulating blood, which reduces the oxygen-carrying capacity of the blood. It develops from loss, destruction or lack of production of red blood cells. Anemia is usually a secondary disease caused by another disease or medical condition. There are three different types of anemia; regenerative, non-regenerative and relative.
Mhanni, A., Cross, H., & Chudley, A. (1999) . Kabuki syndrome: description of dental findings in
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
On his initial examination dated 23/06/13 the patient was seen for a routine full mouth scale and polish with reinforced oral hygiene instruction including flossing technique. He presented with excellent oral hygiene at this appointment which was a reflection of his commitment to good oral hygiene; tooth-brushing twice daily and dental flossing once daily. This was further supported by the patients plaque scores at 5% and bleeding scores at 4% with only minimal supra gingival calculus on lower anterior teeth. There was no erythema or oedema present on the gingival tissues.
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
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.