Question

What causes sickle cell anemia?

   What causes sickle cell anemia?

Chemistry

Thomas Myers,Keith… 1st Edition

Chapter 20, Problem 5

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Solved by Expert Mariana Roldan

07/24/2020

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Hemoglobin is an iron-rich compound that gives blood its red color and enables red blood cells to carry oxygen from the lungs to the rest of the body. Show more…

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What causes sickle cell anemia?

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Key Concepts

Genetic Mutation

Sickle cell anemia is primarily caused by a genetic mutation in the gene responsible for producing the beta chain of hemoglobin. This mutation alters the amino acid sequence, leading to changes in the protein’s structure and function.

Single Nucleotide Substitution

The mutation responsible for sickle cell anemia is a point mutation, which is a single nucleotide substitution in the DNA sequence. This small change results in the replacement of one amino acid for another in the beta-globin protein.

Abnormal Hemoglobin Structure

The mutation leads to the production of an abnormal form of hemoglobin known as hemoglobin S. Under low oxygen conditions, hemoglobin S tends to polymerize, causing red blood cells to distort into a sickle shape, which can impede blood flow and lead to various complications.

Autosomal Recessive Inheritance

Sickle cell anemia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to exhibit the disease. This pattern of inheritance is crucial for understanding the risk and transmission of the disorder in families.

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