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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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…
Carb Cycling: Weighing the pros vs the cons of this diet routine Completely discarding carbs from your life will do you more harm than good. Read more about carb cycling,…
Miracle extract from the root of maca: 10 ways it can help you! Maca root has been used for years in herbal medicine. Today scientific research is unearthing fresh evidence in…
thyroid_scan
Thyroid Scan Thyroid scan is a diagnostic procedure that aims to view the thyroid gland and detect any growths or…
Thyroid disorders
Thyroid Profile Thyroid profile is a panel of blood tests performed to check if an individual is suffering from any…
eating disorder anorexia
Eating Disorders: Lifestyle choice or a psychological condition? Is eating disorder just a harmless bad habit? Or does it represent grim psychological disorders? Do you want…
Dragon Fruit – Blessing from Nature’s Basket Dragon fruit is packed with nutrients but low on calories. It is the dream food that can help…
gallbladder diet tomato
Gallbladder surgery :Tips on post-operative care and diet What to eat post a gallbladder surgery? What are the key things to avoid if you had a…
Shilajit: A miracle Himalayan herb for an active and happy life The Himalayas contain more wonders than you thought. Shilajit is a miracle herb that is widely used in…
General adaptation syndrome: Understanding stress, one step at a time The struggle of the body to produce hormones during a stressful situation is the main theme of general…
Oxalates: How healthy greens can sometimes be bad news for your kidneys Oxalates are compounds present in a majority of healthy foods. However, at times an overconsumption of these could…
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…
ASTtest-liver
AST- Aspartate Aminotransferase Test AST test is a blood test that is used to measure the level of a particular liver enzyme…
antiHEV IgM test
Anti hepatitis E virus (Anti HEV) IgM Test Anti HEV IgM test determines the level of the IgM antibodies in the blood, The disease is often…
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…
shiitake mushrooms healthy
What are Shiitake Mushrooms and why should you eat them? Shiitake Mushrooms are well known for their smoky and robust taste. However, did you know they are replete…
hidden causes obesity
8 hidden causes of obesity you probably didn’t know! Did you know that around 2 billion people worldwide are either overweight or obese? Are you too a…
xylitol gum
Xylitol : Is this the right sugar substitute for you? Discovered during World War 2 owing to sugar shortage, xylitol has become a common name in pharamaceutical industry.…
DHEA wrinkles
DHEA: Now get unbelievable age defiance with this wonder hormone! DHEA is known popularly as the age-defying hormone. This supplement is widely used to slow down aging and…
Juice Plus: Can you really replace actual fruits with pills?  Juice Plus supplements intend to fill nutritional gaps present in our daily diet. But how successful have they…
The complete “what to eat” guide for gluten intolerance Does eating breads and pastas often makes you nauseous? Gluten intolerance is a common reason why you might…
How can Kegels help you overcome weak pelvic muscles & incontinence? Kegel exercises are pelvic floor strengthening exercises that can help you overcome incontinence issues that rise out of…
Mood swings
The real reasons for your mood swings and how to overcome them Are you prone to heated moods frequently? Do you also feel bouts of depressive feeling creeping up on…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
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…
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…
Diabetes blood test
Diabetic Profile The diabetic profile is a set of tests used for testing and monitoring the various kinds of Diabetes…
lose weight fast
12 easy and instant steps to successful weight loss Do you want to lose weight without losing your mind? Does weight loss always mean saying goodbye to…
sugar toxic health
Sugar: 7 new shocking truths revealed about the sweet poison Can drinking soda bring you closer to death? Is sugar slowly poisoning you and your family? You would…
oral hygiene tips
6 shocking consequences of bad oral hygiene (and how to avoid them) Did you know bad breath is not just turning off, but also harms your body in ways you…
High Fiber Diet – Fire up your fiber intake for these health benefits! Regular bowels, healthy detox, higher immunity, and guaranteed weight loss - a high fiber diet can bring all…
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…
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…
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…
Find all the instant ways to get rid of blackheads Blackheads - Not only are they aesthetically unappealing but if left untreated these can cause bacterial overgrowth on…
Low fat diets
A complete list of low-fat diets and how to follow them Low-fat diets help you lose weight in a healthy way, but it works only with regular exercise and…
Bubble Tea: Bubbling with nutrition or a hidden sugar mine? The tapioca pearls present in the tea looks like bubbles and hence the name bubble tea became popular.…
LFT-test
Liver Function Test – LFT LFT or Liver Function Test is a blood test used to determine the levels of hepatic enzymes which…
Vitamin-D-blood-test
25-Hydroxy Vitamin D test 25-hydroxy Vitamin D test is a blood test used to measure the level of vitamin D in the…
amylase test
Amylase Test Amylase test is done by checking the level of this protein in the blood sample and also in…
fructosamine test
Fructosamine Test A fructosamine test measures blood sugar glucose content. Fructosamine level can indicate blood sugar level in past 2-3…
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…
aspartame or sugar
Aspartame – Hidden truths about this storm in a teacup Aspartame, the artificial sweetener, has gone under the scanner on several occasions for allegedly doing more harm than…
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…
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…
Erythritol: A healthy sugar substitute or yet another marketing ploy? Erythritol is a popular choice of a healthy alternative sweetening agent in foods. But how healthy can a…
Gua sha: Scraping away layers of pain with this ancient healing tool Gua sha is an ancient oriental healing method which focuses on scraping the body with specific tools to…
Inversion Therapy: The anti-gravity way of healing chronic back pain Inversion therapy involves suspending a person upside dow using different types of equipment. This works by taking the…
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.
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…
CT-scan-machine
CT – Computed Tomography Scan CT scan or computed tomography scan is an diagnostic imaging technique where cross-sectional images of body are obtained…
valproic acid test
Valproic Acid Test Valproic acid test is performed to generally check for psychiatric and even neurological conditions such as bipolar disease…
cardioliin antibody iga
Cardiolipin Antibody (ACL) – IgA test Cardiolipins are phospholipids that are constituents of the platelets and the cell membranes. The IgA test detects the…
antihepatitis core antigent
Anti-Hepatitis B Core Antigen (AHBc) Total Anti-hepatitis B core antigen (AHBC ) is a blood examination and the only serological marker of infectious blood…

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