Question

Little boy J., a 3-year-old boy of African descent, was brought in by his parents and admitted to his local emergency department. The boy was in severe pain due to anoxia. He had been diagnosed recently with sickle cell anemia.

a. Explain how this disease is transmitted.

b. Discuss how it affects hemoglobin and the red blood cells in an affected person.

c. Why are affected persons in pain?

d. Discuss the laboratory tests for identifying the sickle cell anemia.

e. What is sickle cell trait?

f. Is it diagnosed in the laboratory in the same way as sickle cell disease?

Answer 1

Ans) a) Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations . In regards to sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait.

b) These hemoglobinopathies are inherited single gene disorders. Hemoglobinopathies affect the red blood cells' ability to carry oxygen from the lungs to other parts of the body. An example of hemoglobin disease is sickle cell anemia.

c) Unfortunately, living with pain can affect a person's mood by making someone more susceptible to emotional changes that can foster depression, anxiety, and fear. Such mood disorders can also promote a person's dependence on prescription medications designed to treat the pain, such as opioids.

d) A sickle cell test is a simple blood test used to determine if you have sickle cell disease (SCD) or sickle cell trait. People with SCD have red blood cells (RBCs) that are abnormally shaped. Normal RBCs look like doughnuts. The sickle cell test is part of routine screening performed on a baby after they're born.

e) A condition in which a child inherits the sickle-cell gene mutation from one parent.
Sickle cell disease is an inherited group of disorders in which red blood cells contort into a sickle shape. With sickle cell trait, a child receives the sickle cell gene mutation from only one parent. In this case, the child doesn't get the disease, but can pass the defective gene on to future generations.

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