Sickle cell disease

Sickle cell disease skin

Last Updated December 20th, 2021

Overview of sickle cell disease

In the recent years, the statistics of Global Genes have shown that there are nearly 7000 rare diseases in the world and an estimated 300 million people live with those diseases. They have also established the fact that 6% of the babies are born with rare genetic diseases and about 30% of them die before the age of five. Sickle cell disease is a serious genetic disorder, causing Anaemia or similar conditions in the patients. It is a hereditary blood disorder and mainly affects the African Americans.

The statistics of the American Society of Haematology show that sickle cell disease affects nearly 8% of the African Americans. Around 5% of the world population are carriers of the gene for sickle cell disease, though they do not have the disease themselves. The current global burden of sickle cell disease and blood disorders of different types is quite high and needs immediate attention.

 

What is sickle cell disease?

Sickle cell disease arteriesSickle cell disease is a group of hereditary blood disorders that arise from mutations in the hemoglobin gene. This hemoglobin is the oxygen carrier present in red blood cells (RBCs). The widely observed form of sickle cell disease is Sickle cell anemia. The Red Blood Cells acquire a peculiar sickle-like shape in this disease. Sickle cell disease may occur as early as 5-6 months of age. The usual complications observed are- anemia, swollen feet and hands, bacterial infections and in the extreme cases, stroke.

Complications may worsen with age. These people usually do not live more than 40 years. A very interesting feature of this disease is that the patients are protected from malaria, a mosquito-borne disease common in the equatorial countries. The disease is more prevalent among the African Americans. However, a few other ethnic groups such as the inhabitants of the Middle-east, Central part of India and the countries on the borders of the Mediterranean sea like Italy and Greece.

 

What causes Sickle cell disease?

Sickle cell disease mainly arises when both parents are the carriers of the defective hemoglobin gene. The patient inherits two copies of the mutated hemoglobin gene, one copy from each parent. The proper manifestations of the disease usually occur in the presence of certain triggers like stress, dehydration, temperature and weather changes and high altitude.

The main complications of the disease are attributable to the progressive loss of elasticity of the Red Blood Cells. Under normal conditions, the healthy Red Blood Cells are very elastic and flexible. This allows the cells to pass through the capillaries of varying width.

In sickle cell disease, there is an acute shortage of oxygen in the body, which is pathologically termed as “low oxygen tension”. This leads to the sickle-like deformations of the Red Blood Cells. This phenomenon occurs repeatedly and this reduces the elasticity of the Red Blood Cells. Even when the normal oxygen conditions are restored, the cell shapes do not go back to normal. Therefore they are unable to deform while passing through the capillaries. This gives rise to ischemia and occlusion of blood vessels.

At a more advanced stage, the red blood cells get destroyed, which is known as hemolysis. This gives rise to the anemic symptoms. The rate of formation of new Red Blood Cells from the bone-marrow becomes much less than the rate of destruction of the existing RBCs. The sickle cells perish much earlier than the normal Red Blood Cells (within 10-20 days). This gives rise to the major complications.

 

What are the main symptoms of Sickle Cell disease?

Sickle cell disease RBCsThe patients of Sickle Cell Disease mainly exhibit anemic symptoms in the initial stage. With the gradual progress of the disease, the following symptoms are observed-

  • Sickle cell crisis: It begins as anemia. The associated complications (crises) are- aplastic crisis, hemolytic crisis, sequestration crisis, and vaso-occlusive crisis. It usually lasts for 5-7 days.
  • Vaso-occlusive crisis: In this condition, the sickle cells obstruct the capillaries and impede the circulation of blood to a particular organ. This results in ischemia, pain, necrosis and eventually organ damage.
  • Splenic sequestration crisis: The spleen is affected in many patients owing to its constricted vessels and its function of filtering and discarding the Red Blood Cells.
  • Acute chest syndrome: The main symptoms observed are- pulmonary infiltration, chest pain, fever and hypoxemia (oxygen deficiency).
  • Aplastic crisis: This condition is triggered by the Parvovirus B19, which attacks the RBC precursors and prevents the formation of Red Blood Cells. In this stage, the patients have baseline anemia, rapid heart rate, pallor, and fatigue.
  • Hemolytic crisis: The hemoglobin drop rate, in this case, is very high. It is commonly observed in patients with G6PD deficiency.

 

What are the main types of sickle cell disease?

The classification of sickle cell disease is done based on the inheritance pattern and the characteristics. These are as follows-

  • Sickle cell anemia: Here, the shape of the RBCs is determined by the two defective hemoglobin types that are inherited.
  • Sickle Haemoglobin C disease: It is a relatively milder form of sickle cell disease. Here the baby inherits two distinct abnormal hemoglobins- hemoglobin S and C.
  • Sickle Beta-Zero disease: The two main diseases under this category are- Sickle Beta-Zero Thalassemia and Sickle Beta-Plus Thalassemia.
  • Haemoglobin C disease: It is characterized by a minor abnormality in hemoglobin and is mainly observed in the African American people.

 

Diagnosis

Sickle cell disease skinThe following diagnostic tests are mandatory in order to detect the presence of sickle cell disease-

  • Complete blood count
  • Reticulocyte count
  • Sickle solubility test
  • Hemoglobin electrophoresis
  • Gel electrophoresis
  • High-performance liquid chromatography
  • Genetic testing (done in the prenatal phase)

Sickle cell disease detected in the gestation period can be cured to a certain extent through the umbilical cord blood transplant. In newborns or in very small children bone marrow transplant is often carried out in order to increase the life expectancy.

 

Treatment, management, & prevention

Stem cell transplant can potentially cure sickle cell anemia. However, the risks involved are very high which may include death. Thus, it is usually performed in individuals lesser than 16 years of age as above this age group the risks involved increases. Additionally, finding a donor is a tough task.

The management of sickle cell anemia usually focuses on avoiding emergencies, preventing complications and relieving symptoms. As per the guidelines of the Centers for Disease Control and Prevention (CDC), infants and children (up to the age of 2 years) suffering from sickle cell anemia should frequently visit doctors; children more than 2 years of age should visit at least once in a year.

Some of the treatment modalities are:

  • Antibiotics: Infants suffering from sickle cell anemia need to be given antibiotics from 2 months of age. The antibiotic course continues up to around 5 years of age. This may keep the infant from life-threatening infections such as pneumonia. In case of adults, if the spleen has been removed or if there is a history of pneumonia, penicillin has to be administered lifelong.
  • Pain-relieving medications: These can be given to overcome pain in case of a sickle cell crisis.
  • Hydroxyurea: It can reduce the requirement for blood transfusions and hospitalizations and the frequency of painful episodes if taken on regular basis. It stimulates the synthesis of fetal hemoglobin (the kind of hemoglobin present in newborn babies which functions to prevent the formation of sickle cells. It is contraindicated during pregnancy and might increase the risk of infections in the later part of life. It should only be taken as advised by the doctor.
  • Blood transfusion- This procedure increases the number of healthy blood cells in the circulation and thereby reduces the symptoms of anemia.
  • Bone marrow transplant– This procedure involves the replacement of affected bone marrow by healthy bone marrow.

Other treatment methods include prevention of infections by vaccinations to prevent infections, surgery to rectify vision problems and removal of the spleen in some of the cases. It is an inherited disease caused by gene mutation. Thus prevention of the disease is not possible.

 

 

Dos and Don'ts

Dos
  • Get regular checkups done. An ultrasound is a painless procedure which can assess the risk of getting a stroke for your child.
  • Get vaccinated to prevent infections. Clinical manifestations of infections in patients with sickle cell anemia can be severe. Vaccines such as annual flu shot and pneumococcal vaccine should be administered.
  • Take folic acid supplements. Folic acid is essential for the formation of new cells. Intake of a balanced diet with whole grains and lots of colorful fruits and vegetables can provide the optimum amount of vitamins and minerals.
Don'ts
  • Expose yourself to extreme temperatures. Exposure to very hot or very cold temperatures might increase the possibility of occurrence of sickle cell crisis.
  • Resort to self-medication. Over-the-counter (OTC) medications such as naproxen sodium or ibuprofen can be taken for relieving pain only if advised by the doctor. These might cause damage to the kidneys if not taken in the correct dosage.

 

 

 

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Ureteroscopy Ureteroscopy is the diagnostic procedure which is used for the detection of the kidney stones in addition to…
woman with abdominal pain holding ovulation calendar
Ovulation – facts to know about ovulation Learn how and when ovulation occurs, demystify common misconceptions, identify symptoms, methods of detection and right period for…
liver detox facts
7 liver detox facts and why ignoring these could kill you! Are you taking care of this organ that handles over 500 different vital functions in your body? Your…
5 htp brain
5-htp: Is this the ultimate cure for those pesky migraines attacks? 5-htp is a supplement that is extracted from the plant Griffonia simplicifoli.  It is an amino acid that helps…
gout diet purines
Gout Diet : Get relief from painful joints by eating these foods Are you a victim of this painful condition? Are medications providing only short relief? Find a list of…
What is the right way to take a pregnancy test? A pregnancy test is undertaken to determine if you have conceived. A home pregnancy test is the most…
How accurate is the hair follicle drug test? Hair follicle drug test is one of the best ways to identify drug use in professional circles. But…
sodium chloride
Halotherapy: How inhaling salt can work wonders for your body Halotherapy is quickly gaining popularity amongst those with respiratory diseases. It has shown promise in its treatment.
Balneotherapy jacuzzi
5 things you didn’t know about balneotherapy and how you can do it at home Sauna baths have been popular since a long time. But how much more beneficial can balneotherapy be as…
Crossfit with rope
CrossFit: Now get the perfectly sculpted body with this explosive gym routine CrossFit is a fitness regimen that makes use of high-intensity exercises in a shorter period to achieve muscle…
ASTtest-liver
AST- Aspartate Aminotransferase Test AST test is a blood test that is used to measure the level of a particular liver enzyme…
leptospira Igm test
Leptospira-IgM Test A Leptospira-IgM test is a blood test which is carried out to detect anti-Leptospira IgM antibody. Leptospirosis is…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
improve digestion weight loss
Power up your gut: 8 proven steps on how to improve your digestion Did you know you have a colony of bacteria in your gut that help you in digesting food?…
Bromelain: 11 reasons why you should start adding pineapple to your pizza! If you didn't love pineapples already, here are some of the top health benefits that bromelain can bring…
Coconut sugar: What is it and is it healthier than table sugar? In the long list of things that the wonderful coconut gives us, coconut sugar is another remarkable addition.…
The right way to prepare Alfalfa sprouts at home Alfalfa or lusan ghas is not just a nutritious animal fodder. This flavonoid-rich herb has some amazing health…
Love tea, hate tannins? Rooibos tea is just what you need The market is brimming with a multitude of herbal teas. But what makes rooibos tea (or red bush)…
Tamarind: The top health benefits of this staple Asian ingredient Did you know this sweet and sour pulpy fruit does more than just add a tangy flavor to…
Fibromyalgia fatigue
HCG Diet: The dangers of using this diet to lose weight HCG is a natural hormone produced by both men and women that corresponds to fertility. But how is…
Urologist: When should you visit one and why? A urologist can treat not only genitourinary problems of both men and women but also can treat various…
How to scrub away stress and fatigue with an Epsom salt bath? Epsom salt is a popular home remedy for many skin ailments. Though there is a lack of scientific…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
Bronchoscopy procedure
Bronchoscopy Bronchoscopy is a procedure where in a scope is inserted into the lung pathway to observe any growth…
amylase test
Amylase Test Amylase test is done by checking the level of this protein in the blood sample and also in…
BULIMIA NERVOSA vomiting
Can you get addicted to food? Learn everything about food addiction What is food addiction? How can people get addicted to eating? Is it an unhealthy eating habit or…
Period sanitary napkin-menstruaion-blood-colors
Period blood – what it says about your health Your period blood color and consistency indicate what is happening in your body. Is your blood bright red…
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Sweeteners – Are They Good or Bad for Our Health? Sweeteners can be artificial and natural. Learn about the different types of sweeteners and their health benefits and…
social media adddiction
Your health in the age of Social Media: Why is digital detox a necessity? Did you know that more than 400 million people are dangerously addicted to social media? Are you one…
avocado benefits
Avocado: 15 reasons why this fruit should be a staple in your diet Did you know that the word avocado literally means "testicles". Don't get grossed out as this power-packed fruit…
green poop causes
Green poop : What are the reasons and how can you correct it Ever sneak a peek down the toilet only to shockingly find green poop? Why does our poop turn…
black seed oil benefits
Black Seed Oil: What secret benefits could it bestow on your health? Black seeds or nigella seeds are tiny packets of health brimming with amazing benefits. Find out why should…
edamame
Edamame: How healthy are these green baby beans? Edamame or "immature" soybeans are soft and easily digestable forms of soybeans that are great as an eveyday…
Oil of Oregano: The one-stop essential oil you’ve been looking for Are you plagued by a weak immune system? High body inflammation accompanied by pain and infections? Why not…
Cayenne: The remarkable benefits of these red hot chili peppers These may make you rush for a glass of water, but cayenne pepper is actually a healthy additive…
Did you know drinking alkaline water could be the healthier choice for you? Ever wondered how safe is your drinking water in terms of pH? Recent studies have revealed that Alkaline…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
How seitan proved to be a blessing in disguise for vegans worldwide Can only meat-eaters enjoy delicious juicy steaks and burgers? With seitan, the best meat substitute available today,even vegans…
Astaxanthin: Why experts believe it could be 550x more potent than vitamin E! What is astaxanthin and why is this new supplement on the block touted as the most powerful antioxidant…
Goji berry: A traditional Chinese berry that packs the best of antioxidants Goji berry is an ancient berry that is considered to be power-packed with nutrients and antioxidants. Which means…
SIBO Diet: The important dos and don’ts of this gut-healing diet A SIBO diet is a diet that works by eliminating certain sugars from your diet and adding fibers…
GGt test
GGT – Gamma-Glutamyl Transferase Test GGT or gammaglutamyl transferase test is a liver function test that is used to detect the extent of…
blood elements analysis
Blood Element Analysis Test A blood element analysis is a blood test performed to measure the level of toxic elements such as…
folate test
Folate test The Folate test measures and monitors the levels of folic acid in the blood. This test is also…
lipase test
Lipase Test A lipase test is a blood test performed to quantitatively measure the level of the enzyme lipase in…
rosacea-treatment--before-_-after
The best and safest ways to treat rosacea Rosacea is a skin disease that is characterized by reddish hives and rashes on the face. Read more…
Hepatitis A virus infected liver
Hepatitis A Virus (HAV) Total Blood test to look for IgM antibodies to know if you are infected with Hepatitis A virus (HAV),…
kshar sutra
Kshar sutra treatment for piles, fissures and fistula Read to know the benefits and side effects of kshar sutra to treat anal piles, fissures, and fistula…
Splenda
Splenda Splenda is an artificial sweetener derived from Stevia plant extracts. It is low in calories and a popular…
quinoa salad
Quinoa : A prodigious superfood you need to include in your diet today! Quinoa - what is so special about this native South American grain that has taken the world by…

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