How many types of genetypes are possible in the inheritance pattern of sickle cell anaemia ?
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Answer:
Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes.
Hemoglobin SS disease
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.
Hemoglobin SC disease
Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS. However, the anemia is less severe.
Hemoglobin SB+ (beta) thalassemia
Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. The size of the red blood cell is reduced because less beta protein is made. If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. Symptoms are not as severe.
Hemoglobin SB 0 (Beta-zero) thalassemia
Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene. It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta zero thalassemia are more severe. It is associated with a poorer prognosis.
Hemoglobin SD, hemoglobin SE, and hemoglobin SO
These types of sickle cell disease are more rare and usually don’t have severe symptoms.
Sickle cell trait
People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms.
Who is at risk for sickle cell anemia?
Children are only at risk for sickle cell disease if both parents carry sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type you might carry.
People from regions that have endemic malaria are more likely to be carriers. This includes people from:
Africa
India
the Mediterranean
Saudi Arabia
What complications can arise from sickle cell anemia?
SCD can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. Painful or damaging blockages are called sickle cell crises. They can be caused by a variety of circumstances, including:
illness
changes in temperature
stress
poor hydration
altitude
The following are types of complications that can result from sickle cell anemia.
Severe anemia
Anemia is a shortage of RBCs. Sickle cells are easily broken. This breaking apart of RBCs is called chronic hemolysis. RBCs generally live for about 120 days. Sickle cells live for a maximum of 10 to 20 days.
Hand-foot syndrome
Hand-foot syndrome occurs when sickle-shaped RBCs block blood vessels in the hands or feet. This causes the hands and feet to swell. It can also cause leg ulcers. Swollen hands and feet are often the first sign of sickle cell anemia in babies.
Splenic sequestration
Splenic sequestration is a blockage of the splenic vessels by sickle cells. It causes a sudden, painful enlargement of the spleen. The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. Some sickle cell patients will sustain enough damage to their spleen that it becomes shrunken and ceases to function at all. This is called autosplenectomy. Patients without a spleen are at higher risk for infections from bacteria such as Streptococcus, Haemophilus, and Salmonella species.
Delayed growth
Delayed growth often occurs in people with SCD. Children are generally shorter but regain their height by adulthood. Sexual maturation may also be delayed. This happens because sickle cell RBCs can’t supply enough oxygen and nutrients.
Neurological complications
Seizures, strokes, or even coma can result from sickle cell disease. They are caused by brain blockages. Immediate treatment should be sought.
Eye problems
Blindness is caused by blockages in the vessels supplying the eyes. This can damage the retina.
Skin ulcers
Skin ulcers in the legs can occur if small vessels there are blocked.
Heart disease and chest syndrome
Since SCD interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms.
Lung disease
Damage to the lungs over time related to decreased blood flow can result in high blood pressure in the lungs (pulmonary hypertension) and scarring of the lungs (pulmonary fibrosis). These problems can occur sooner in patients who have sickle chest syndrome. Lung damage makes it more difficult for the lungs to transfer oxygen into the blood, which can result in more frequent sickle cell crises.
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