Sickle Cell Anemia Diagnosis – Confirming The Condition

Sickle cell anemia can be diagnosed at any point of time during a person’s life. However, an early diagnosis is important to manage the condition effectively through proper sickle cell anemia treatment and care. A specific blood test is carried out as part of sickle cell anemia diagnosis, to detect if an individual has the disease or is a carrier of the sickle cell trait.

sickle cell anemia diagnosis

Blood tests like Hb evaluation and DNA analysis are carried out as part of sickle cell anemia diagnosis.

Tests For Sickle Cell Anemia Diagnosis

There are different kinds of blood tests used to detect hemoglobin S, an abnormal form of hemoglobin that is characteristically found in people with sickle cell anemia symptoms. Here are some of the tests that are commonly conducted as part of sickle cell anemia diagnosis.

  1. Hemoglobin S Solubility And Sodium Metabisulfite Test

    This test is used to screen for hemoglobin S in adults. A particular chemical is added to a blood sample taken from the subject, to reduce the amount of oxygen in the blood sample. If the subject has a sickle cell defective gene, sickle-shaped cells are formed in the blood due to the reduction of oxygen.

    It is not advisable to conduct this test on newborns, because until they are almost a year old, there will only be a production of hemoglobin F in the blood, and not hemoglobin S. If this test is performed in infants, there is a possibility of false negative results.

  2. Hb Evaluation

    This test is performed in order to check and measure the total number of abnormal hemoglobin cells in the blood. The most common methods used to carry out this test are Hb electrophoresis, Hemoglobin fractionation by HPLC method, and isoelectric focusing.

  3. Screening In Newborn Children

    In countries like the United States of America, it is mandatory to screen all newborn children for autoimmune disorders. By using the Hb isoelectric method, the abnormal hemoglobin S is screened. If there is a presence of abnormal sickle cells, then a second test is advised to confirm the results of the screening test. This helps determine if the child is a carrier of the sickle cell anemia trait or has a sickle cell disease.

  4. DNA Analysis

    This test is commonly used to detect the defective gene that is responsible for producing hemoglobin S. It is also used to determine if an individual has only one defective gene (sickle cell anemia trait) or two. If both the genes are defective, it indicates a case of sickle cell anemia.

    DNA Analysis is usually carried out for unborn children, if one or both the parents have been diagnosed with sickle cell anemia or are carriers of the sickle cell anemia trait. A sample of the amniotic fluid (which contains the genetic material) that surrounds the unborn child is taken for DNA testing. In some cases, a chorionic villus sample (sample from the placenta) is taken for testing. This test is usually carried out at 14 to 16 weeks of pregnancy.

If you or your spouse is a carrier of the sickle cell trait, your child could acquire the defective gene from either of you, as this is what causes sickle cell anemia. Consult a doctor for sickle cell anemia diagnosis if you’re planning a family. In any case, an early diagnosis is recommended for this condition to ensure timely treatment.

Sickle Cell Anemia Treatment – Tips On Managing The Condition

Sickle cell anemia is a chronic disease that can be managed effectively. Sickle cell anemia complications mainly crop up due to sickle shaped red blood cells in the affected individuals, which disrupts the flow of blood to vital parts of the body. Through sickle cell anemia treatment measures, any crisis associated with the disease can be dealt with and further complications can be prevented.

sickle cell anemia treatment

Doctors often prescribe pain-relieving medication as part of sickle cell anemia treatment.

The Most Effective Sickle Cell Anemia Treatment Measures

Individuals who have sickle cell anemia should undergo a regular blood test for effective sickle cell anemia diagnosis, for doctors to monitor their complete blood count. There are different types of sickle cell anemia treatment options available, and these are as follows.

  • Pain-Relieving Medication

    In order to treat the constant pain that sickle cell anemia patients experience, strong pain medication is prescribed on a regular basis. Applying heat to the area that is causing pain is also advised for immediate relief.

  • The Use Of Antibiotics

    Repeated lung infections are very common among young children who suffer from sickle cell anemia. Because of this, they are administered penicillin from the age of 2 months till they are 5 years old.

    This is used as a preventive measure against infections that could otherwise lead to acute chest syndrome and its related complications. Antibiotics are commonly used to treat such infections in adults.

  • Hydroxyurea Treatment

    Hydroxyurea is a chemotherapy agent with potent effects on the bone marrow. This substance is used to bring down the pain in individuals with sickle cell anemia. This mode of treatment can also reduce the number of times a blood transfusion is required.

    Hydroxyurea treatment is more commonly prescribed for adults, and in some cases, this treatment is used in newborn children to stimulate the fetal hemoglobin, in order to prevent the formation of sickle shaped red blood cells. However, there are several side effects associated with Hydroxyurea treatment. Studies have shown that the repeated use of Hydroxyurea can cause cancerous tumor in some individuals.

  • Immunization Against Infections

    Young children who suffer from this condition are more prone to infections, and these can be prevented and managed by regular immunization. The common vaccines used for this purpose are haemophilus influenza, pneumococcal conjugate, and pneumococcal polysaccharide.

  • Blood Transfusions

    Red blood cells that are sickle shaped are trapped in the spleen during circulation, and this causes the red blood cell count in the body to drop. This in turn causes anemia in patients.

    In order to overcome such anemia, frequent blood transfusions are required. However, repeated blood transfusions can spiked up the iron content in the blood, further damaging organs like the liver and the heart. In order to reduce the iron levels, an oral medication called deferasirox is prescribed during sickle cell anemia treatment.

  • Oxygen Supplements

    People who suffer from acute chest syndrome due to sickle cell anemia are likely to face difficulty breathing. In such cases, additional oxygen is usually supplied through a mask, to ease the process of breathing.

  • Nitric Oxide Supplements

    This form of sickle cell anemia treatment is designed to counter the low concentration of nitric oxide in the blood of affected individuals. Nitric oxide gas is supplied through a mask in this mode of treatment, and aids in opening the blood vessels up for better blood flow. It also prevents the red blood cells from sticking to each other and blocking the blood vessels.

  • Bone Marrow Transplants

    The only available cure for sickle cell anemia is a bone marrow transplant.

    The bone marrow in an individual with sickle cell anemia is first washed out using chemotherapy. Healthy bone marrow cells from a healthy individual are introduced into the blood stream of the individual with sickle cell anemia.

    These cells travel to the bone marrow cavity, where they start producing normal red blood cells. However, there is small risk involved in this type of sickle cell anemia treatment. In some cases, the body might reject the fresh bone marrow that’s been transplanted.

  • Gene Therapy

    Several studies are being conducted worldwide to explore the possibility of inserting a normal gene into the affected individual’s genome.

    This form of sickle cell anemia treatment helps in producing normal red blood cells. Researchers are also trying to negate the function of the defective gene and activate the gene that helps in producing fetal hemoglobin, which is usually found to active in the first year of life. This would in turn prevent the formation of sickle cell red blood cells.

By taking adequate steps to prevent the disorder or by adopting appropriate sickle cell anemia treatment measures, you can avoid the complications that the disease brings and its implications. It is important to identify the primary sickle cell anemia symptoms for timely diagnosis and treatment.

sickle cell anemia facts

Understanding What Causes Sickle Cell Anemia – A Detailed Approach

Sickle cell anemia is an inherited genetic disorder of the red blood cells. The abnormal sickle shaped red blood cells are the main cause behind the complications associated with sickle cell anemia. But what causes sickle cell anemia in the first place? That’s where genetics come in.

what causes sickle cell anemia

A mutation in the DNA is what causes sickle cell anemia, by disrupting the properties of hemoglobin.

What Causes Sickle Cell Anemia – Some Basic Facts

Sickle cell anemia is inherited in an autosomal recessive manner, which means that if both the genes that a child inherits from his parents are defective, he’s prone to sickle cell anemia.

However, if only one defective gene is inherited during birth, the individual becomes a carrier of the sickle cell trait. This means that while the individual may not show any symptoms of sickle cell anemia, he’s likely to pass on the condition to his child if his partner (the mom) also carries the sickle cell trait.

Sickle cell anemia facts dictate that there’s a 50% chance of the disease being passed on to kids. In the case of parents who are carriers of the sickle cell trait, there is a 25% chance that they’ll have a child with sickle cell anemia.

What Causes Sickle Cell Anemia – A Deeper Look

Sickle cell anemia was one of the first genetic diseases to be described at a molecular level.

A single mutation in the DNA is responsible for this condition. It has been hypothesized that this mutation might have occurred in the DNA spontaneously in different populations. The single change disrupts the shape and the chemical properties of the hemoglobin, protein, and iron composite in the red blood cells.

In healthy and regular individuals, the body produces hemoglobin A, whereas in sickle cell anemia patients, the body produces hemoglobin S, an abnormal form. The abnormal hemoglobin S components join and create strand-like structures that elongate the red blood cell and give it a sickle-shaped structure. Although the defective gene is prevalent in Europe and Asia, a majority of Africans are carriers of the mutated gene.

What Causes Sickle Cell Anemia – Alternative Causes

Another possible cause of sickle cell disease is thalassemia, which is a kind of blood disorder that is inherited in the same autosomal recessive manner. In individuals with thalassemia, an abnormal type of hemoglobin is produced. This hemoglobin damages the red blood cells, resulting in anemia.

If one parent is a carrier of the thalassemia trait and another parent is a carrier of the sickle cell trait, there is a 25% chance that the child will inherit both the defective genes. This condition is known as sickle thalassemia. The manifestation of clinical symptoms in this case might range from mild to severe, and differ between individuals.

Understanding what causes sickle cell anemia can help you cope with the disease and make long term management plans. It is important to opt for sickle cell anemia treatment measures once the condition has been diagnosed.

sickle cell anemia symptoms

The Seven Main Sickle Cell Anemia Complications – A Quick Look

Sickle cell anemia, also known as sickle cell disease, is a genetic condition that affects the shape of red blood cells in a person’s bloodstream. Several complications arise because of the abnormally shaped red blood cells in different parts of the body, and these are characterized by sickle cell anemia symptoms. The disease should be diagnosed and treated as soon as possible mainly due to such sickle cell anemia complications.

The Seven Sickle Cell Anemia Complications

Sickle Cell Anemia Complications #1: Acute Chest Syndrome 

This is one of the most severe sickle cell anemia complications, and it can become life threatening if timely treatment and care is not provided.

This condition arises when sickle shaped blood cells block the small blood vessels in the lungs. It can also be triggered if the lungs get infected by microorganisms like bacteria or viruses. This in turn causes fever, chest pain, and breathing difficulty in individuals with sickle cell disease.

sickle cell anemia complications

Sickle cell anemia complications can affect major organs like the lungs and kidneys

Sickle Cell Anemia Complications #2: Organ Damage 

When the sickle shaped red blood cells prevent the easy flow of blood through the blood vessels, oxygen supply to various organs is reduced.

Over a long term, inadequate oxygen or blood supply can damage the organs and nerves in the body. The organs that are most affected in this way are the brain, bones, muscles, liver, lungs, kidneys, spleen, eyes, and penis (in the case of males).

If timely treatment is not provided, such sickle cell anemia complications could be fatal.

Sickle Cell Anemia Complications #3: Stroke

When the blood supply to the brain is insufficient, the body reacts through a stroke. The most common symptoms of a stroke are:

  • Loss of consciousness
  • Sudden seizures
  • Sudden difficulty in speech
  • Numbness in the legs and arms

This is also a fatal complication.

Sickle Cell Anemia Complications #4: Splenic Sequestration Crises

During circulation, the sickle shaped red blood cells get trapped in the spleen, and this enlarges the organ. Low blood supply results in anemia too.

The symptoms associated with this condition are:

  • Weakness
  • Breathing difficulty
  • Pale skin
  • Increased heart beat
  • Pain in the abdomen
  • Enlarged spleen

Sickle Cell Anemia Complications #5: Pulmonary Hypertension 

Due to high blood pressure in the blood vessels, pulmonary hypertension develops.

This is one of the most common complications that can be noted in young adults with sickle cell disease. Because of hypertension, the right side of the heart is damaged, which in turn reduces the blood supply to the body. The most common symptoms are weakness, dizziness, and shortness of breath.

Sickle Cell Anemia Complications #6: Blindness 

When the blood supply to the eyes is affected repeatedly, the retina is damaged permanently. This condition is called retinopathy, and it is one of the primary complications associated with sickle cell anemia.

The most common symptoms are:

  • Blurred vision
  • Streaky vision
  • Reduced night vision
  • Sudden loss of vision

Sickle Cell Anemia Complications #7: Priapism 

This is the most common complication in men with sickle cell disease.

Under this condition, patients suffer from severe pain and long lasting erections. The sickle shaped red blood cells block the blood vessels that supply blood to the penis, and in turn, the lack of blood supply damages the organ and finally leads to impotence.

Apart from these sickle cell anemia complications, affected individuals might develop other problems like delayed physical development, gall bladder disease, liver problems, kidney problems, and gum disease. In many cases, multiple complications might arise due to sickle cell disease, and this is one of the reasons why the sickle cell anemia diagnosis and treatment is highly important.

sickle cell anemia facts

Five Sickle Cell Anemia Facts You Should Know About

Sickle cell anemia is an inherited disorder of the red blood cells. To understand this condition and learn about its prevalence, symptoms, and treatment options, all you need to do is brush up on some basic sickle cell anemia facts – and you’ll be well aware of the disease.

Normally, the red blood cells in the body are disc shaped, but in the case of patients who are suffering from sickle cell anemia, the red blood cells are crescent shaped or sickle shaped. This is primarily what causes sickle cell anemia.

Sickle Cell Anemia Facts: The shape of the sickled red blood cell interrupts regular blood flow

Sickle Cell Anemia Facts: The shape of the sickled red blood cell interrupts regular blood flow.

Their abnormal shape obstructs the movement of these red blood cells in the blood vessels, which in turn affects the proper supply of oxygen throughout the body. This results in severe sickle cell anemia complications, in the form of strokes and organ damage.

Five Interesting Sickle Cell Anemia Facts

Here are five sickle cell anemia facts to help you understand the condition better.

It Is A Genetic Condition

Sickle cell anemia is an inherited genetic condition. For the normal production of red blood cells, two normal genes are required (one from each parent). If one of the genes is defective, the individual carries a sickle cell trait.

In such cases, the affected individual will not have any sickle cell anemia symptoms, as disease is caused only when both the genes are defective.

It Affects African-Americans More

Worldwide, more than 500,000 babies are affected by sickle cell anemia in a year. Although it is more prevalent in populations across Europe and Asia, a majority of the patients who are affected by sickle cell anemia are African-Americans.

One in every 400 African American children is born with sickle cell anemia.

It Reduces The Risk Of Malaria

Sickle cell anemia is found more commonly in areas where the prevalence of malaria is high. However, individuals with sickle cell trait are less likely to be affected by malaria, as studies have shown.

Although the relation between sickle cell anemia and malaria has not been confirmed, the chances of malaria-related deaths among those afflicted with sickle cell anemia is far less.

It Does Not Affect The Pregnancy Cycle

A woman with sickle cell anemia can have a healthy pregnancy.

By taking early prenatal care and monitoring the development of the child during pregnancy, women with sickle cell anemia can undergo a normal pregnancy. To find out if the unborn child has been affected by sickle cell anemia or a similar trait, a specific test is conducted during the second trimester.

It Is Chronic, But Treatable

Sickle cell anemia is a chronic disease, but it is treatable. Patients with this disease suffer from extreme pain, as the flow of red blood cells in the body is affected because of their abnormal shape.

In order to deal with anemia and pain medications, patients need repeated blood transfusions. The disease can be managed efficiently through everyday care and regular sickle cell anemia treatment.

It can also be cured through bone marrow or stem cell transplants, wherein the normal healthy cells that form blood are transplanted from a normal person into a patient who is suffering from the condition.

Now that you know the basic sickle cell anemia facts through the above points, you can easily understand the causes, symptoms, and treatment options.

sickle cell anemia complications

Sickle Cell Anemia Symptoms – The Types Of Crises You Can Face

Sickle cell anemia symptoms start showing right when a child is 4 to 6 months of age, and these symptoms might vary from mild to severe ones, and also between two individuals.

The organs that are most affected by the sickle shaped red blood cells are the brain, bones, muscles, liver, lungs, kidneys, spleen, eyes, and penis (in the case of males).

Generally, people who are suffering from sickle cell disease are also likely to have a weak immune system, and in turn, are vulnerable to infections from flu viruses, pneumonia, and salmonella.

The Progression Of Sickle Cell Anemia Symptoms

Sickle cell anemia symptoms are progressive from infants to adults.

  • In infants, the notable symptoms usually are fever, pain in the chest, abdomen, limbs and joints; swelling in the toes and fingers, lung infections, and bleeding from the nose.
  • In children, the most common sickle cell anemia symptoms include a chronic and severe pain in the bones. They also suffer from anemia, irritability, and jaundice.
  • In adults, sickle cell anemia symptoms again include a chronic and severe pain in the bones and joints, and other problems like anemia, gum disease, vision problems, and delayed puberty.

The sickle cell crises occur when the red blood cells block the small blood vessels in the body, causing acute pain. The intensity of the pain might vary between individuals. Some individuals suffer from just a few episodes of crises, whereas others might suffer from more such episodes in a year.

sickle cell anemia symptoms

Vision problems rank among the common sickle cell anemia symptoms.

Sickle cell anemia complications don’t necessarily have a particular cause behind them, however they can be triggered by various conditions such as fever, any infection caused by microorganisms, dehydration, hypoxia, any physical injury that causes bleeding, cold exposure, drug or alcohol abuse, pregnancy, or stress.

Sickle Cell Anemia Symptoms – The Types Of Crises People Face

There are different kinds of crises, and these are classified on the basis of the body part that has been affected.

Acute Chest Syndrome Crisis

This type of crisis is more common in young individuals. People who suffer from this condition often experience severe pain in the chest, while coughing up blood. They are also likely to face low fever and shortness of breath. If this condition is not treated immediately, it could lead to the individual’s death.

Splenic Crisis 

During circulation, the sickle shaped red blood cells get trapped in the spleen, preventing them from flowing out of the spleen. This results in the enlargement of the spleen, and the blood count also drops, resulting in anemia in the individuals suffering from sickle cell disease.

Such individuals require repeated blood transfusion until the body recovers and is able to make new red blood cells.

Bone Crisis

The bones in the arms and legs, including the femur, humerus, and tibia, are likely to develop sudden and severe pain, resulting in a bone crisis. This is usually caused due to inadequate blood supply.

In young children, the bones in the toes and fingers usually enlarge, resulting in intense pain. This condition is termed dactylitis.

Joint Crisis

Under this condition, the main bone joints might together develop pain simultaneously or a sole bone joint might develop pain. This, again, is because of the inadequate supply of blood to these regions.

Abdominal Crisis

Severe abdominal pain that rises without any particular association to an abdominal condition is often due to abdominal crisis, mainly in patients who suffer from sickle cell disease. The acute pain can also trigger other conditions in such individuals, especially issues like diarrhea, nausea or vomiting.

You should immediately consult a physician if you note such sickle cell disease symptoms  personally or around you. Only when the condition is effectively diagnosed can further steps for sickle cell anemia treatment be taken.

sickle cell anemia diagnosis