Question

A child with sickle cell anemia presents with pain all over, especially the joints. Which of the following best links the patho with S&S?

a. Cyst formation in the kidneys leads to blood spillage from the circulation into the
urine, thus causing anemia.
b. A single-gene mutation causes malfunction of genetic coding for clotting properties, leading
to bleeding and ischemic pain of the joints.
c. Chromosomal aberrancy causes malformation of RBCs in the blood supply to the joints and subsequent pain due to lack of oxygen.
d. A single-gene mutation causes malfunction in RBC O2-carrying capacity, leading to ischemic pain in the joint tissues.

Answer 1

The pathology of sickle cell anemia involves a single-gene mutation that impairs the oxygen-carrying capacity of RBCs, causing sickle-shaped cells to block blood flow and leading to ischemic pain in joints.

Step-by-step explanation:

The correct answer that links the pathophysiology with the signs and symptoms (S&S) for a child with sickle cell anemia presenting with pain all over, especially the joints, is:

:
A single-gene mutation causes malfunction in red blood cell (RBC) O2-carrying capacity, leading to ischemic pain in the joint tissues.

Sickle cell anemia is caused by a genetic mutation that leads to the production of an abnormal type of hemoglobin, called hemoglobin S. This abnormal hemoglobin causes the RBCs to deform into a sickle or crescent shape, particularly under conditions of low oxygen. These malformed cells are less capable of carrying and delivering oxygen to the tissues. Due to their abnormal shape, the sickle-shaped RBCs can become lodged in narrow capillaries, which blocks blood flow to different parts of the body, including the joints.

The reduced blood flow results in ischemic pain because the tissues are not receiving sufficient oxygen, leading to what's known as vaso-occlusive crisis, the hallmark of sickle cell pain episodes. This pain can be severe and is a common symptom in individuals with sickle cell anemia.