SICKLE CELL DISORDER

Sickle cell anemia or sickle cell disease (SCD), is a genetic disease of red blood cells (RBCs) caused by an autosomal recessive single gene defect in the beta chain of hemoglobin (HbA), which results in sickle cell hemoglobin (HbS). Originally, RBCs are disc-like in shape, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. The characteristic crescent–shaped or sickle cell hemoglobin can disrupt blood flow and is associated with certain degrees of anemia. That is, they are sticky, rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage.

SCD is an autosomal recessive condition. Two copies of the gene will be needed to have the disease. One who has only one copy of the gene is said to have sickle cell trait.

Symptoms of Sickle Cell

Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark. The symptoms include:

Pains in the bones or joints and in the chest.
Dizziness, excessive fatigue or irritability from anemia fussiness in babies, low oxygen in body or malaise.
Bedwetting, from associated kidney problems.
Jaundice, which is yellowing of the eyes and skin.
Abnormal breakdown of red blood cell, delayed development, inability to make concentrated or dilute urine, inflamed fingers or toes, pallor, shortness of breath.
Frequent infections.

The average life span of people with sickle cell disease is 14 yrs but today life expectancy for those patient can reach 50 yrs and beyond. Women with sickle cell usually live longer than their male counterparts.

Types of sickle cell disease.

The four main types of sickle cell anemia are caused by different mutations in these genes.
Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains.

Hemoglobin SS disease:
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when one 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.

People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have little or no symptom at all.

Children are only at risk for sickle cell disease if both parents have sickle cell trait. A blood test called a hemoglobin electrophoresis can also determine which type one has.

People from regions that have endemic malaria are more likely to be carriers. This includes people from:

Africa
India
The Mediterranean
Saudi Arabia.

Complications that arise from sickle cell disease.
SCD can cause severe complications, which appear when the sickle cells block vessels in different areas of the body. Painful or damaged blockages are called sickle cell crises. They can be caused by various circumstances which includes:

Illness
changes in temperature
stress
poor hydration
altitude

The complications that can result from sickle cell anemia includes.

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.

Priapism
Priapism is a lingering, painful erection that can be seen in some men with sickle cell disease. This happens when the blood vessels in the penis are blocked. It can lead to impotence if left untreated.

Gallstones
Gallstones are one complication not caused by a vessel blockage. Instead, they are caused by the breakdown of RBCs. A byproduct of this breakdown is bilirubin. High levels of bilirubin can lead to gallstones. These are also called pigment stones.

Sickle chest syndrome
Sickle chest syndrome is a severe type of sickle cell crisis. It causes severe chest pain and is associated with symptoms such as cough, fever, sputum production, shortness of breath, and low blood oxygen levels. Abnormalities observed on chest X-rays can represent either pneumonia or death of lung tissue (pulmonary infarction). The long-term prognosis for patients who have had sickle chest syndrome is worse than for those who have not had it.

Diagnosis of sickle cell disease/trait

Prebirth testing looks for the sickle cell gene in the amniotic fluid.

In children and adults, one or more of the following procedures may also be used to diagnose sickle cell disease.

Detailed patient history
The condition often first appears as acute pain in the hands and feet. Patients who have had one or more of SCD symptoms are tested for sickle cell anemia.
Several blood tests can be used to look for SCD:

Blood counts can reveal an abnormal Hb level in the range of 6 to 8 grams per deciliter.
Blood films may show RBCs that appear as irregularly contracted cells.
Sickle solubility tests look for the presence of Hb S.

Hb electrophoresis
Hb electrophoresis is always needed to confirm the diagnosis of sickle cell disease. It measures the different types of hemoglobin in the blood.

Treatment for sickle cell disorder
A number of different treatments are available for SCD:

Rehydration with intravenous fluids helps red blood cells return to a normal state. The red blood cells are more likely to deform and assume the sickle shape if one is dehydrating.

Treating underlying or associated infections is an important part of managing the crisis, as the stress of an infection can result in a sickle cell crisis. An infection may also result in the complication of the crisis.

Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.

Supplemental oxygen is given through a mask. It makes breathing easier and improves oxygen levels in the blood.

Pain medication is used to relieve the pain during a sickle crisis. You may need over-the-counter drugs or strong prescription pain medication.

Hydroxyurea (Droxia, Hydrea) helps to increase production of fetal hemoglobin. According to scientists, its main cure for sickle cell as frequency of painful crises are reduced and the possibility of blood transfusion and hospitalization is also likely to be reduced as well.

Immunizations can help prevent infections as patients tend to have lower immunity.

Bone marrow transplant has been used to treat sickle cell anemia. Children younger than 16 years of age who have severe complications and have a matching donor are the best candidates.

Doctors treat most complication of sickle cell anemia with antibiotics and vitamins.
blood transfusion, and pain – relieving medicine.
source

Home care
There are things one can do at home to help reduce sickle cell symptoms:

Use heating pads for pain relief.
Take folic acid supplements, as recommended by your doctor.
Eat an adequate amount of fruits, vegetables, and whole-wheat grains. Doing so can help the body make more RBCs.
Drink more water.
Exercise regularly and reduce stress.
Contact a doctor immediately if you think you have any type of infection. Early treatment of an infection may prevent a full-blown crisis.

Prevention of Sickle Cell

Get tested for the sickle cell traits.
Speak to a genetic counselor.
Get tested if you are of African or Indian descent
Go for blood test.
Have your Unborn baby tested for sickle cell anemia.
Maintain a healthy habit and a healthy diet.
Do not smoke or drink alcohol.

Long-term outlook for sickle cell disease.
The prognosis of the disease varies. Some patients have frequent and painful sickle cell crises. Others only rarely have attacks.

Sickle cell anemia is an inherited disease. Talk to a genetic counselor if you’re worried that you might be a carrier. This can help you understand possible treatments, preventive measures, and reproductive options.

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