Explain how the sickle cell mutation results in the symptoms of the disease?

Solutions

Expert Solution

Sickle cell anemia(SCA) is an autosome linked recessive disorder controllled by two alleles HbA and HbS of Hb gene.This disorder is transmitted from parents to progenies when both the parents are carrier(heterozygous) for the trait.Here homozygous individual( HbS HbS)shows the disease and heterozygous individuals (HbA HbS) are partially affected.Reason for SCA is the substitution of glutamic acid by valine( GAG to GUG) at the sixth position of beta globin chain of haemoglobin.Affected people show sickle/crescent moon shaped RBCs in blood.These RBCs die early and results in anemia due to the shortage of RBCs.These sickle shaped cells may block the flow of blood in smaller blood vessels and cause swelling and pain in hands and legs.Affected people are weak and may experience vision problems.Puberty will be delayed.We know that Hb carries oxygen to the cell for cellular respiration.Oxygen deficiency is the major reason for these symptoms.

gladiator answered 1 year ago

Next > < Previous

Related Solutions

1, Describe the mutation in the DNA molecule that leads to sickle cell disease. (What change...

1, Describe the mutation in the DNA molecule that leads to sickle cell disease. (What change is there in the DNA?) 2. How did this mutation affect the amino acid sequence in the hemoglobin protein? (Which amino acid was different?) 3. What was the effect on the actual hemoglobin protein caused by this amino acid change? 4. How do the changes in the red blood cells relate to the symptoms

Describe the pathophysiology of sickle cell disease.•Discuss factors that can precipitate a sickle cell crisis.•Create a...

Describe the pathophysiology of sickle cell disease.•Discuss factors that can precipitate a sickle cell crisis.•Create a care plan for the patient presenting in sickle cell crisis.•Prioritize assessments and interventions for thepatient in sickle cell crisis.•Discuss the rationale for common medications and interventions used to treat sickle cell crisis.•Discuss pain management recommendations for the patient in sickle cell crisis.•Create an education plan for the patient being discharged following hospitalization for sickle cell crisis.•Describe common complications of sickle cell disease.•Discuss the rationale...

Describe how mutations cause the following diseases and specifically what the mutation is: 1) Sickle cell...

Describe how mutations cause the following diseases and specifically what the mutation is: 1) Sickle cell anemia 2) G6PD deficiency 3) Thalassemia 4) Chondrodysplasia 5) Ehlers-Danlos Syndrome

Sickle cell anemia is a recessive disorder caused by a mutation in the hemoglobin A gene....

Sickle cell anemia is a recessive disorder caused by a mutation in the hemoglobin A gene. Persons with the disease have a variety of serious health issues related to fragile and sickling red blood cells including premature death, and infants sometimes die from complications. In regions of central Africa where malaria is endemic, the relative fitnesses for individuals that are homozygous for the wild type hemoglobin allele (HbA), heterozygous (HbAHbS), and homozygous for the sickle cell allele (HbS) are 0.8,...

1- Patients with sickle-cell disease and those with sickle-cell trait differ greatly in clinical presentation. List...

1- Patients with sickle-cell disease and those with sickle-cell trait differ greatly in clinical presentation. List at least two features in clinical presentation, and explain why they differ. 2- Other than hemoglobin S, name two abnormal hemoglobins that produce a positive sickle solubility test. Explain how they could be differentiated from HbS. 3- Explain how methemoglobin is formed, and how its presence impacts oxygen delivery. Be sure to include oxygen affinity in your answer. 4- How is methemoglobin detected in...

The nurse is caring for a patient with exacerbation of sickle cell disease and in pain...

The nurse is caring for a patient with exacerbation of sickle cell disease and in pain crisis due to an infection. When reviewing the lab values, the nurse would anticipate which of the following lab values? Select all that apply. 1. Reticulocyte 12% 2.Hgb 9.2 mg/dL. 3.WBC 14.3x 103\microL 4. Ca 4.9 mg/dL

Provide Health Promotion teaching with references for Sickle Cell Disease.

Sickle-cell anemia is an autosomal recessive disease, people with the disease have a ss genotype and...

Sickle-cell anemia is an autosomal recessive disease, people with the disease have a ss genotype and people without the disease have a SS genotype. People who have the disease get very ill, but people who have only one copy of the recessive gene are actually protected from getting malaria (Ss heterozygote genotype). Which area of the world is the frequency of sickle cell anemia the highest? Why do you think this is true (related to heterozygote advantage)? We talked about...

The disease is Sickle Cell Rubric Define your disease, (pathophysiology) in detail to the class, then-(20)...

The disease is Sickle Cell Rubric Define your disease, (pathophysiology) in detail to the class, then-(20) 1. Identify health related issues associated with your disease process-(10) 2. Compare and contrast developmental task theory (Robert Havighurst), and the psychosocial theory (Erikson) of growth and development-(10) 3. Identify conditions that influence growth and development at all ages-(10) 4. Discuss cognitive and psychosocial challenges for peds patients with this disease-(10) 5. Describe special assessments unique for this age group-(10) 6. Discuss age-appropriate interventions...

Describe the mechanisms behind Huntingtons Disease and Sickle cell, connecting how the genetic anomalies relate to...

Describe the mechanisms behind Huntingtons Disease and Sickle cell, connecting how the genetic anomalies relate to their phenotypes/observed symptoms.

Subjects