Mutation is any change or alteration in an organism's genetic material (DNA). Changes in genetic material can occur due to various factors, such as replication errors, exposure to environmental agents like radiation and chemicals, or even inherited from parents. Mutations can be beneficial, harmful, or have no effect on an organism and can occur in any living organism, including plants, animals, and humans.
A vast range of mutations might occur in human DNA. But here we discuss some main types of mutation:
1. Substitution mutation
2. Inversion mutation
3. Insertion mutation
4. Deletion mutation
A point mutation is one or more nucleotide replacements in a DNA structure. It involves replacing a thymine base with an adenine base, resulting in the codon for Glutamic Acid (GAG) becoming the codon for Valine (GTG). This type of mutation changes a pyrimidine base to a purine base. Substitution mutation is the type of mutation that causes sickle cell anemia.
Sickle cell anemia (SCA) is the result of the substitution mutation.
SCA affects the body's RBCs (Red Blood Cells), causing them to become misshapen and break down, leading to complications. Red blood cells are typically flexible and spherical, allowing for rapid flow through blood vessels. However, some red blood cells become rigid, firm, and crescent-shaped in sickle cell anemia. This can lead to significant problems since blood cannot flow correctly through the body.
Yes, Anemia is a genetic disorder from parents to their children. If both parents carry the gene for hemoglobin S (HbS), their child may develop the condition. The inheritance pattern is known as autosomal recessive. If the parent possesses such genes, there is a 50% chance of SCA.
SCA is a medical diagnosis that affects people from specific ethnic backgrounds. In Black or African American offspring, one sickle cell gene is inherited from each parent in around 1 in 13 cases, leading to SCA. Approximately one child in every 365 American newborns is affected by this disease.
This disease is dangerous and fatal. There are some common and severe signs and symptoms of SCA are discussed:
The sickle cell anemia symptoms may appear often or sometimes. Any of these symptoms can occasionally be quite severe:
- A yellowing of the skin and eyes characterizes Jaundice. Discomfort in the chest, abdomen, or both
- A bone aches
- Postponed puberty
- Extreme thirst
- Chills and a fever
- Often urinating
- A rapid heartbeat
- Erections that happen suddenly, hurt, and last a long time (priapism)
- Anemia symptoms such as headaches, dizziness, and poor circulation
- Leg and skin abrasions
Severe signs of SCA that might be life-threatening. The crises associated with sickle cell anemia can occasionally be fatal.
- Chest discomfort, tightness, pressure, and palpitations
- Breathing difficulty or fast breathing
- Incapacity to talk or speech that is mumbled or garbled
- A high fever (defined as one that exceeds 101 °F)
- Loss of eyesight or visual changes
- Intense stomach discomfort
- Extreme tiredness, slowness, or shortness of breath
- Sudden change in eyesight
- Face difficulty in walking or talking
Anemia is a disorder that can't be prevented. To reduce complications, avoid cigarettes, alcohol, high-altitude locations, and stress. Stay hydrated, get enough oxygen, exercise regularly, get vaccinated, take meds as prescribed, and treat infections promptly.
It has no cure yet. While it is possible to manage the symptoms of sickle cell anemia, there are cases where patients may experience life-threatening crises. The goal of treatment is to reduce crisis frequency and avoid complications. Bone marrow transplant or stem cell therapy can cure some patients, but most cannot undergo these procedures.
- Blood transfusions (for severe cases)
- Fluid treatment (orally or intravenously)
- Encourages the production of a specific type of hemoglobin
- Painkillers (to manage pain)
- Supplementing with folic acid to promote the formation of red blood cells
- Vaccinations for preventing disease
Sickle cell anemia is treated with risky and expensive permanent therapies like stem cell replacement and bone marrow transplantation. However, finding a suitable donor match is difficult due to its hereditary nature. Researchers are investigating new drugs and therapies, such as gene therapy, to cure sickle cell anemia.
Understandably, sickle cell anemia can be a challenging inherited genetic disorder for families to face and manage. This disorder comes from parents to their offspring, which can be a source of worry and concern. That happens when there's a change in the hemoglobin gene. This mutation is inherited from one or both parents, resulting in the red blood cells taking on a sickle or crescent shape instead of their usual round shape. This condition can cause significant pain, Anemia, organ damage, and reduced lifespan. However, thanks to ongoing research, the management and therapy of this disease have undergone significant improvements, including early diagnosis, supportive care, and potentially curative treatments such as bone marrow transplantation.
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