Sickle Cell Disease, SCD or Sickle Cell Anemia is a form of inherited anemic condition where healthy red blood cells are not enough to carry adequate amounts of oxygen to various parts of the body. Normal red blood cells are round & flexible so as to easily move through blood vessels. Red blood cells in SCD become sticky & rigid & shape like crescent moon or sickles. These irregularly shaped red blood cells often get stuck within small blood vessels & can effectively slow or block blood flow & oxygen which is necessary to many parts of the body. For most people there is no cure for SCD. However, treatment options can often relieve pain & help prevent development of further problems generally associated with SCD.
Signs & Symptoms of Sickle Cell Anemia
Signs & symptoms of SCD generally do not appear until the time infant is 4 months or older. Common signs & symptoms of SCD include –
- Anemia – Sickle cells are typically fragile & break apart very easily & die leaving patients without sufficient supply of red blood cells. Red blood cells generally live for about 120 days before perishing & therefore are constantly required to be replaced. However, sickle cells normally die after an average life-span of less than 20 days resulting in a lasting shortage of red blood cells & thereby causing anemia. Absence of sufficient red blood cells in blood circulation deprives body of oxygen which is needed to feel energized & will subsequently cause fatigue.
- Episodes of Pain – Periodic episodes of pain in SCD are called crisis & are a major symptom of sickle cell anemia. Pain eventually develops when sickle-shaped red blood cells block flow of blood through tiny blood vessels of joints, abdomen & chest. Pain in SCD is also found to occur within bones. Pain may also however vary in intensity & last from few hours to weeks. While some SCD patients experience fewer episodes of pain, many others experience 12 or more crisis every year. In case SCD crisis is severe, patients may also need to be hospitalized.
- Hand-Foot Syndrome – Swollen hands & feet of SCD patients may be the first sign of this disease in infants. These swellings are generally due to blocking of blood flow to hands & feet caused by sickle-shaped red blood cells.
- Delayed Growth – Since red blood cells provide body with nutrients & oxygen needed for growth, shortage of red blood cells will therefore slow growth in babies & children & often delay puberty among teenagers.
- Frequent Infections – Sickle cells can often damage spleen which is an organ fighting infection in the human body. SCD therefore makes people more vulnerable to developing infections. However, doctors commonly give vaccinations & antibiotics to infants & children with SCD so as to prevent developing potentially life-threatening infections like pneumonia.
- Problems with Vision – Some people with SCD also experience problems with vision since tiny blood vessels supplying blood to eyes may get plugged with sickle cells. This can also eventually cause damage to retina which is the part of eye involved in processing visual images.
Reasons to Seek Emergency Medical Care
Though SCD is usually diagnosed in infancy, seek emergency medical care when children develop any of these following problems.
- Swellings in hands and/or feet.
- Unexplained episodes of severe pain like pain in joints, bones, chest & abdomen.
- Swelling in abdomen, especially if areas are tender to touch.
- Fever can sometimes be the first sign of infection & people with SCD have increased risk of infection.
- Pale nail beds or pale skin.
- Yellow tint to whites of eyes or to skin.
- Signs & symptoms of stroke in SCD include one-sided paralysis or weakness in legs, arms or face, confusion, trouble talking or walking, unexplained numbness or sudden vision problems or severe headache.
Causes of Sickle Cell Disease
SCD is caused by mutation in gene which commands the body to make hemoglobin which gives blood the red color. Hemoglobin in fact slows red blood cells to carry oxygen from lungs to all parts of the body. Abnormal hemoglobin causes red blood cells to become sticky, rigid & misshapen in patients suffering from SCD. Sickle cell gene is passed from one generation to another in a pattern known as autosomal recessive inheritance which means that both mother & father must pass on defective forms of genes for the child to be affected. The child will not have any SCD traits in case only one parent passes the sickle cell gene. With only one defective form of gene & one normal hemoglobin gene, resulting progeny with sickle cell trait will make both sickle cell hemoglobin & normal hemoglobin. However, their blood will contain some sickle cells but they will generally not experience any symptoms. Nevertheless, they will be carriers of SCD & can pass defective gene to their children.
With every pregnancy couples with sickle cell traits have –
- 25% chances of having unaffected children with normal hemoglobin.
- 50% chances of having children who are also carriers like them.
- 25% chances of having children with sickle cell disease.
Sickle Cell Anemia Initial Consultation
Usually diagnosed through genetic screening tests done when babies are born, SCD results are normally given to a pediatrician or family doctor. Once SCD is diagnosed, patients are referred to hematologists who are doctors specializing in blood disorders or to a pediatric hematologist. Since these appointments can be brief, it would be ideal to be well prepared to cover a lot of ground in a short period of time.
Consultation with Pediatric Hematologist
- Write Down Symptoms Noticed – Including any which may seem unrelated to SCD for which this appointment is scheduled.
- Bring Along a Family Member or Friend – Quite often it would be difficult to remember entire information collected during initial appointment. Another person accompanying you will help remember anything you have missed or forgotten.
- Questions to Ask Doctors – Since time with doctors is limited it would be helpful to prepare a list of questions. Do not hesitate to ask any number of additional questions you have in mind. Some basic questions relating to SCD include the following.
- What is the most likely cause of my child displaying these symptoms?
- Could there be any other possible causes?
- What types of tests are required in this case?
- What are the available treatment options & which one do you recommend?
- What side effects are common with these treatments?
- Do we have any alternatives to the primary approach you have suggested?
- What is the prognosis in this case?
- Will there be any restrictions concerning diet or activity?
- Can you provide me any brochures or printed material that I can take with me to gain complete information?
- Which websites would you recommend I refer to?
Expect Doctors to Ask You the Following Questions
Doctors are most likely to ask you a number of questions. So be prepared to answer them & reserve some time to go over points that you feel like spending more time on.
- What point of time did you first notice these symptoms?
- Have these symptoms been occasional or continuous?
- What seems to improve these symptoms?
- What is it that seems to worsen these symptoms?
- Does anyone in your family have sickle cell disease?
- Did anyone ever tell you that you have sickle cell anemia trait?
Tests & Diagnosis of Sickle Cell Disease
Blood test can check for hemoglobin S which is the defective type of hemoglobin underlying SCD. In some countries this blood test is also part of the routine newborn screening done in hospitals. However, older children & adults can also be tested for this. Samples for this test in adults are drawn from a vein in arm. Blood sample for this test in babies & young children is usually collected from a finger or heels. These samples are subsequently sent to a laboratory to screen for hemoglobin S. There is no sickle cell gene present for the person in case the screening test is negative. In case the screening test is positive, further tests are required so as to determine whether one or two sickle cell genes are present. People having one gene indicate sickle cell trait & only have a fairly small percentage of hemoglobin S in blood. But people with two genes indicate SCD & have much larger percentage of defective hemoglobin.
Additional Tests for SCD
Sample of blood is subsequently examined under microscope so as to check for larger number of sickle cells to confirm diagnosis as this is a marker of SCD. In case the patient has SCD, blood tests are also conducted to check for anemia or low red blood count will be performed. Doctors may also suggest additional tests to be conducted so as to check for possible complications resulting from SCD. Patients carrying sickle cell gene or their parents are quite often referred to a genetic counselor who is an expert in genetic diseases.
Tests Detecting Sickle Cell Genes Prior to Birth
SCD can be effectively diagnosed in unborn babies by sampling amniotic fluid surrounding the baby in mother’s womb in order to look for sickle cell genes. In case the mother or the father has been diagnosed with SCD or sickle cell trait, it would be proper for them to check with the doctor so as to consider this screening test. Also ask for referral to a genetic counselor in order to correctly understand risk to the baby in such situations.
Treatment & Medications for Sickle Cell Disease
BMT or Bone Marrow Transplant is the only potential cure for SCD. However, finding a suitable donor is difficult & this procedure poses serious risks including possibility of death. Treatment for SCD is basically aimed at avoiding crisis alongside relieving symptoms & prevention of complications. SCD patients will have to make regular visits to doctors in order to monitor health & check red blood cell count. SCD treatments also include medications which are generally meant to reduce pain & prevent complications, blood transfusion & supplementing oxygen & bone marrow transplant.
Medications for Sickle Cell Disease
Common medications used in treatment of SCD include –
- Antibiotics – Children with SCD may start by taking antibiotic penicillin when they are about 2 months old & continue this course until they are at least 5 years of age. This will help them prevent infections like pneumonia which can often be life-threatening to infants & children with SCD. Antibiotics will also be helpful to fight certain infections for adults with SCD.
- Pain Relieving Medications – Doctors often advise over-the-counter pain relieving medications & application of heat to affected areas so as to relieve pain during sickle crisis. Stronger pain medication prescriptions may also be needed at times during this period.
- Hydroxyurea – Hydrea & Droxia will reduce frequency of painful crisis & need for blood transfusions when taken daily. Hydroxyurea works by stimulating production of fetal hemoglobin, a type of hemoglobin found in newborns, which helps in preventing formation of sickle cells. Since Hydroxyurea increases risk of infections, there is concern that long term use may cause leukemia or tumors in some people. Hydroxyurea was however initially used just for adults with SCD. Studies concerning Hydroxyurea on children have shown that this drug may prevent serious complications associated with SCD, but long-term effects of this drug among children are yet unknown. Doctors can however help patients determine if use of Hydroxyurea may be beneficial or not in specific cases.
- Assessing Risk of Stroke – Doctors can find out which SCD children have higher risk of stroke by using a special transcranial ultrasound machine. These tests can be applied on children who are as young as 2 years & those who are identified to have high risk of stroke can subsequently be treated with regular blood transfusions.
- Vaccinations to Prevent Infections – Vaccinations during childhood are important in all children for preventing a number of diseases. However, these vaccinations are all the more important in children with SCD as infections are much severe. Doctors will doubly make sure that children with SCD receive all recommended childhood vaccinations. Pneumococcal vaccine & annual flu shot vaccinations are also most important for adult SCD patients.
- Blood Transfusions – Red blood cells are removed from a supply of donated blood for red blood cell transfusions. These cells are then subsequently given intravenously to SCD patients. Blood transfusions are meant to increase number of red blood cells in circulation so as to help relieve anemia. Moreover, regular blood transfusions will effectively decrease risk of stroke among SCD children with high risk of stroke. However, as they contain iron, blood transfusions also carry some amount of risk. Regular blood transfusions will build up excessive amounts of iron in body & which can damage liver, heart & other organs. Therefore, SCD patients undergoing regular blood transfusions will require treatments to reduce iron levels. Oral medications like Deferasirox can help reduce excessive levels of iron.
- Supplemental Oxygen – Breathing masks can help deliver supplemental oxygen to blood. Apart from making breathing easier, this treatment method will be extremely helpful for SCD patients facing sickle cell crisis or acute chest syndrome.
- Stem Cell Transplant – Also known as Bone Marrow Transplant, this procedure involves replacing bone marrow affected by SCD with healthy bone marrow from donors. Due to a number of associated risks, stem cell transplant if only recommended for people having significant problems & symptoms from SCD. Diseased bone marrow in SCD patients is first depleted with Chemotherapy or Radiation Therapy when a suitable donor is found. Healthy stem cells from a donor are then filtered from blood. These healthy stem cells are then intravenously injected into bloodstream of SCD patients where they migrate to bone marrow cavities & start generating newer blood cells. This procedure however requires extended hospital stays. SCD patients will also receive drugs so as to help prevent rejection of donor stem cells after bone marrow transplant. This is to overcome the risk of rejection which can lead to life-threatening complications. Moreover, not everyone can find a suitable donor or be a good candidate for stem cell transplantation.
Treating SCD Complications
Most complications relating to SCD are treated as they occur. Treating SCD complications may include pain relieving medications, blood transfusions, vitamins, antibiotics & other medications including possibility of surgery to correct vision problems or removal of damaged spleen.
Experimental Treatments for Sickle Cell Disease
Newer treatments for SCD under research include the following.
- Gene Therapy – Researchers are exploring if inserting normal gene into bone marrow of SCD patients will result in normal production of hemoglobin since sickle cell anemia is caused by defective gene. Another possibility being explored is turning off defective gene while reactivating another gene responsible for fetal hemoglobin production. These potential gene therapy treatments are however still a long way from benefitting people with SCD.
- Nitric Oxide – SCD patients have lower levels of nitric oxide in blood. Nitric oxide gas helps in keeping blood vessels open while reducing stickiness of red blood cells. Therefore, treatment with nitric oxide may eventually prevent clumping together of sickle cells. However, studies with nitric oxide have generally provided mixed results so far.
- Drugs to Boost Fetal Hemoglobin – Various drugs are under study so as to devise boosting ways of fetal hemoglobin production. Fetal hemoglobin is a type of hemoglobin which prevents formation of sickle cells.
- Statins – Normally used to lower cholesterol, statins may also be helpful in reducing inflammation. Statins may therefore also help blood flow better through blood vessels in SCD patients.
Sickle Cell Disease Risk Factors
Risk of inheriting SCD simply comes down to genetics. Both parents must however essentially carry sickle cell gene for babies to be born with SCD. Sickle cell gene is more common among families coming from South & Central America, Caribbean Islands, Saudi Arabia, India, Africa & Mediterranean countries. It is mostly the black community which is affected by SCD in United States.
Sickle Cell Disease Complications
There are a host of complications which SCD can lead to.
- Acute Chest Syndrome – This is a life-threatening complication of SCD causing fever, chest pain & difficulty in breathing. Acute chest syndrome is often caused by lung infection or blocking of blood vessels in lungs by sickle cells. This condition may at times also require emergency medical treatment using antibiotics.
- Stroke – Sickle cells blocking blood flow to areas of brain can result in strokes. Common signs of stroke include weakness, seizures, sudden difficulty in speech, numbness or weakness in arms & legs and/or loss of consciousness. Especially when babies or children display any of these signs or symptoms, it would be sensible to seek immediate medical treatment. Strokes can also be fatal.
- Organ Damage – Sickle cells can block flowing of blood through blood vessels & thereby deprive organs from receiving essential blood & oxygen. As it is, blood is also chronically low on oxygen in SCD patients. Chronic deprivation of oxygen in blood can invariably damage nerves & organs in the body including spleen, liver & kidneys. Organ damage also can quite often be fatal in people with SCD.
- Pulmonary Hypertension – SCD patients can also develop pulmonary hypertension or high blood pressure in lungs. This complication is however usually found to affect adults rather than children. Fatigue & shortness of breath are common symptoms involving this condition & can at times also be fatal.
- Blindness – Tiny blood vessels supplying blood to eyes can also get blocked by sickle cells. Over a period of time, this can also damage portions of eye like retina which process visual images & eventually lead to blindness.
- Skin Ulcers – SCD can cause ulcers or open sores on legs.
- Gallstones – Breakdown of red blood cells in the process produce a substance called bilirubin; high levels of bilirubin in body will lead to developing gallstones.
- Priapism – Men SCD patients may at times experience painful & long-lasting erections which is a condition called priapism. This is because sickle cells can also block blood vessels located in the penis. Priapism can also damage penis & subsequently lead to impotence.
Coping & Support for Sickle Cell Disease
People with SCD & close relatives of patients in the family may often need help so as to cope up with stress generated by this lifelong disease. These are some tips which are worth trying.
- Finding Someone to Talk – Sickle cell clinics & treatment centers will provide information & counseling for patients & close relatives. Check with the doctor & supporting staff about support groups for families in the area. Talking to others facing similar challenges can be very helpful. Family, friends & prayers can also provide effective support.
- Exploring Ways to Cope with Pain – Consult the doctor to find ways so as to control pain. Although pain medications help, they cannot at times take away all pain. Different working techniques for different people like hot baths, heating pads, physical therapy or massage can be helpful.
- Learning about SCD to Make Informed Decisions – Parents of children with SCD will need to learn as much as they can so as to make informed choices about effective care. It would be therefore ideal to ask as many questions during appointment sessions & ask the health care team to recommend other sources for further learning.
Sickle Cell Disease Preventive Measures
Parents carrying sickle cell traits may wish to seek genetic counseling prior to conceiving. Genetic counselors can help them understand risks involving children born with SCD. Counselors can also explain preventive measures & reproductive options available including possible treatments.
Sickle Cell Disease Treatment in India
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