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It results from homozygosity for a mutation in the beta globin gene and is transmitted by autosomal recessive inheritance (Passarge, 2007). A single nucleotide polymorphism (SNP) occurs in the beta globin chain, which results in the substitution of the amino acid residue glutamine at position 6 for valine. An individual may have one such abnormal gene and another normal gene and is said to be heterozygous. When a couple that is heterozygous for HbS give birth to children, there is a likelihood of one or more of the children inheriting these HbS genes from each of the parents. When this happens, the child has both HbS genes and is said to be homozygous for HbS. This is when a child suffers from sickle cell disease.
This disorder has potentially serious complications and early medication (prior to the development of symptoms) can advance morbidity and mortality. It affects hemoglobin, a protein that is part of red blood cells, which is responsible for oxygen transport. It is characterized by the presence of sickle cells in the bloodstream, which is also known as erythrocyte sickling. This causes difficulties in circulating red blood cells as the blood vessels get clogged and cause symptoms such as pain in the extremities (Gordon, 2000).
This disorder develops within the first 2 years, and the symptoms can be traced back to two main phenomena which are hemolysis and clots. Hemolysis causes chronic anemia, jaundice, lack of growth and sexual maturation. The vascular occlusions cause crisis musculoskeletal pain, increase susceptibility to bacterial infections (S. pneumonia, K. pneumonia, Homophiles influenza, etc.), cerebral infarction, and renal impairment.
As a consequence of the mutation, when the hemoglobin is deoxygenated, it spontaneously undergoes polymerization to form a crystalline gel. Each polymer is composed of longitudinal beams 14 of deoxy-Hb which are arranged to form a tactoid body, insoluble and rigid
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This study will be guided by the following research questions: What is the level of knowledge among pregnant women with the sickle cell trait from the Mississippi Delta about sickle cell disease? What are the attitudes of pregnant women with the sickle cell trait from the Mississippi Delta about sickle cell disease?
This paper take a look at some of the various ways that the disease affects the lives of people and how this disease can be controlled and managed without causing death. A series of articles and books have been used here as the main sources for getting the useful information used here.
SCD is a genetic disorder with autosomal recessive pattern of inheritance (Pelehach, 1995; Routhieaux, Sarcone, Stegenga, 2005) caused by a single-based mutation of adenine to thiamine resulting in a substitution of valine for glutamine at the 6th codon of the ?
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The diseased individuals inherit the genes from their affected parents and pass it on to their offspring. In sickle cell disease, abnormal haemoglobin S replaces the normal haemoglobin A due to alterations in the genes. The function of haemoglobin is to transport oxygen and deliver it to the different organs and cells of the human body.
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This implies that comprehensive plans must be formulated; and proper medical teams utilized, to implement these plans in caring for individuals affected by genetic disorders. The case study under scrutiny, which focuses on a family with a genetic disorder history, seeks to give insight into possible integration strategies while caring for people with genetic ailments.
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Research shows that one in 12 African Americans and about one in 100 Hispanic Americans convey the sickle cell attribute, which implies they are bearers of the infection. Sickle cell sickness is brought about by a change in the hemoglobin-Beta gene found on chromosome 11.
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