Introduction:
Genetic Blood Disorders genetic blood disorders are transmitted from parents to their children. Certain blood disorders are caused by the reduced production of red blood cells. Red blood cells in our body do not last forever and are needed to be produced after some time, when the production of these red blood cells stops it causes blood disorders in the body of the human beings and may result in some serious disease. There are several related abnormal hemoglobin diseases, such as sickle cell anemia and thalassemia.
Such diseases can be transmitted from parents to children by genes on chromosomes. When both parents have the sickle cell trait, there is a 25% chance that a child will have sickle cell disease. But when one parent is carrying the trait and the other actually has the disease, the odds increase to 50% that their child will inherit the disease.
Sickle Cell Anemia:
Sickle cell anemia is an inherited form of anemia — a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body. That is caused by a disorder in the genes responsible for forming hemoglobin. Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
Symptoms:
- Periodic episodes of pain in different parts of the body according to the place for breaking red blood cells and microvascular obstruction such as pain in abdomen, joints, or one of the parties.
- Chronic anemia.
- Frequent infections.
- Symptoms of malnutrition, short stature and slow growth.
- Bone deformities.
- Lethargy and fatigue.
- Visual impairment.
Complications:
Complications occur as a result of blockage of small blood vessels and the breakdown of red blood cells, and these complications include:
- Heart attack and stroke.
- Increased infections.
- Jaundice, often noticed by yellowing of eyes and skin.
- Gallstones
- Deterioration of the retina due to lack of nourishment. Damage can lead to partial or total blindness
- Delay in proper growth and attaining puberty in children. In adults, stunted growth or slow process of growing.
Treatment:
- Treatment for sickle cell anemia is usually aimed at avoiding crises, relieving pain, preventing complications and improving the ability of the patient to live with the disease.
- Sickle cell anemia patient is in need of continual care to prevent recurrence of complications and deterioration of its health status.
- Folic acid supplements are recommended for the purpose of producing red blood cells.
- To relieve pain during a sickle crisis the patient is treated with pain medications and increasing fluid intake.
- In some cases, the pain may respond to over-the-counter (OTC) pain medication, while others require stronger effect, such as morphine and meperidine under medical supervision at hospital.
- Treatment with hydroxyurea may reduce the frequency of painful crises and of acute chest syndrome for adults.
- Antibiotics are routinely given to prevent infections in children. Children and adults should also receive all recommended vaccinations, including yearly flu shots.
- Patient does not need blood transfusions on a regular basis, as well as in emergency crises.
- Patient's eyes may be affected, which can lead to partial or total blindness, therefore, the patient must be careful to visit an eye doctor on a regular basis.
- Bone marrow transplants can cure sickle cell disease.
Prevention:
The commitment to a premarital examination helps to reduce the transmission of genetic blood diseases across generations; as medical tests show the possible existence of infected genes among women or men, who do not show symptoms.