Discover expert diagnosis and treatment options for Sickle Cell Anemia, a genetic disorder causing abnormal red blood cells. Learn about symptoms, causes., and management

Sickle Cell Anemia

Online Consultation

Iqra Mazhar

Overview

<p>Sickle cell anemia is characterized by sticky, stiff, sickled red blood cells that block blood flow and affect oxygen supply.&nbsp;<br />
&nbsp;</p>

<p>In sickle cell anemia, the red blood cells lose their flexibility and become stiff, sticky, and sickle-shaped. These altered cells are unable to pass through blood vessels, disrupting oxygen flow to body cells. The reduced number of healthy red blood cells leads to anemia.<br />
<br />
SCA is one of the most prevalent hereditary hemolytic anemias in the world, affecting 50,000&ndash;70,000 people in the United States and possibly millions more globally.<sup><a href="#accordion">[1]</a></sup>&nbsp;It is most common in people from regions endemic to malaria, such as Africa, India, and the Mediterranean. In the United States, African Americans have a greater incidence of the disease.<br />
&nbsp;</p>

<p>There are no specific subtypes of sickle cell anemia.<br />
&nbsp;</p>

Signs and Symptoms

<p>The signs and symptoms of sickle cell anemia typically appear around the age of 6 months but can start as early as 4 months of age. These include:<br />
&nbsp;</p>

<h5><strong>Anemia</strong></h5>

<p>Normally, red blood cells have a lifespan of 120 days. However, sickled cells die in 10 to 20 days. Furthermore, these cells break apart easily. Thus, people have a reduced number of red blood cells, resulting in anemia. There is a reduced supply of oxygen to body cells, leading to fatigue, pale skin, and breathing problems. Babies with anemia may also experience unusual fussiness or irritability in addition to these symptoms. Children may develop more slowly than kids their age or experience late puberty.<br />
&nbsp;</p>

<h5><strong>Episodes Of Pain</strong></h5>

<p>One of the main signs of sickle cell anemia is recurrent episodes of excruciating pain, sometimes known as pain crises. Red blood cells with sickle shapes obstruct blood flow to the joints, belly, and chest, causing pain. The pain varies in intensity, lasting for a few hours to a few days. Some people may only experience a few pain crises in a year, while others experience more than a dozen.</p>

<p>Some teenagers and adults with sickle cell anemia also have chronic pain, which is brought on by ulcers, bone and joint degeneration, and other conditions.<br />
&nbsp;</p>

<h5><strong>Delayed Growth Or Puberty</strong></h5>

<p>The body receives the oxygen and nutrients it needs for growth from red blood cells. For newborns, children, and teenagers, a lack of healthy red blood cells can postpone puberty and slow down growth.<br />
&nbsp;</p>

<h5><strong>Frequent Infections</strong></h5>

<p>In people with sickle cell anemia, the spleen may become damaged, increasing the risk of infections. Thus, infants and children with SCA receive vaccinations and antibiotics against possible life-threatening infections.<br />
&nbsp;</p>

<h5><strong>Vision Problems</strong></h5>

<p>Sickle-shaped red blood cells can also occlude the tiny blood vessels supplying the eyes. This damages the retina, leading to vision problems.<br />
&nbsp;</p>

<h5><strong>Swelling Of Hands And Feet</strong></h5>

<p>The sickle cells can block the blood supply in the hands and feet, causing swelling.</p>

<p>Most persons with sickle cell anemia have a higher risk of developing additional medical issues as they age.<br />
&nbsp;</p>

<p><strong>Note:</strong> Fever can often be life-threatening in children with SCA. Contact a healthcare professional if your child develops a fever greater than 101.5 F. Furthermore, look out for symptoms of a stroke, such as unilateral paralysis, confusion, severe headache, difficulty walking or talking, or sudden vision changes<br />
&nbsp;</p>

Causes

<p>Red blood cells can transport oxygen from the lungs to all parts of the body because of hemoglobin, the iron-rich protein that is the main part of red blood cells. In sickle cell anemia, mutations of the hemoglobin gene result in rigid and sticky red blood cells.</p>

<p>One copy of the sickle cell gene must be present in both parents for a child to be afflicted. If a child inherits the sickle cell gene from only one parent, they will have the sickle cell trait. People with the sickle cell trait can produce sickle cell hemoglobin and typical hemoglobin because they have two genes for hemoglobin, one of which is altered. Despite the possibility of some sickle cells in their blood, individuals typically don&#39;t exhibit any symptoms. Yet, they are disease carriers, which implies their offspring could inherit the gene.<br />
&nbsp;</p>

<p>Prenatal screening involves looking for the sickle cell gene in the amniotic fluid. Hemoglobin electrophoresis is used to identify the type of hemoglobin, including the abnormal hemoglobin that causes sickle cell anemia. The blood sample in newborns and young children is often taken from the heel or tip of the finger.</p>

<p>People with an increased risk of SCA or those with the SCA trait are referred to a genetic counselor.<br />
&nbsp;</p>

Diagnosis

<p>To diagnose a person with sickle cell anemia, the doctor will first take a detailed patient history. Most people present with acute pain in the hands and feet. They may also have severe pain in the bones, anemia, growth delays, recurrent respiratory infections, and ulcers of the legs. The doctor will then conduct several blood tests to assess the hemoglobin level and the shape of the RBCs. They may also conduct the sickle solubility test.</p>

<p>When sickle cell anemia is clinically suspected in a patient, imaging tests like the ones listed below can help with the diagnosis:</p>

<ul>
	<li>
	<h5><strong>Radiography</strong></h5>
	</li>
</ul>

<p>Patients with respiratory problems need to get chest X-rays.</p>

<ul>
	<li>
	<h5><strong>MRI</strong></h5>
	</li>
</ul>

<p>Useful for the early diagnosis of bone marrow alterations brought on by osteomyelitis, osteonecrosis, marrow hyperplasia, and acute and chronic bone marrow infarction.</p>

<ul>
	<li>
	<h5><strong>CT Scanning</strong></h5>
	</li>
</ul>

<p>Those who are unable to get an MRI may show modest patches of osteonecrosis that are not visible on plain radiographs, and they may use it to rule out renal medullary cancer in patients presenting with hematuria.</p>

<ul>
	<li>
	<h5><strong>Nuclear Medicine Scanning</strong></h5>
	</li>
</ul>

<p>Early osteonecrosis stages are discovered through bone scanning.</p>

<ul>
	<li>
	<h5><strong>Transcranial Doppler Ultrasonography</strong></h5>
	</li>
</ul>

<p>This can help detect adolescents with sickle cell disease who are at high risk of having a stroke. Children as young as 2 years old can undergo this painless test, which employs sound waves to assess blood flow in the brain.</p>

<ul>
	<li>
	<h5><strong>Abdominal Ultrasonography</strong></h5>
	</li>
</ul>

<p>Can be used to assess the size of the spleen and liver as well as to rule out cholecystitis, cholelithiasis, or an ectopic pregnancy.</p>

<ul>
	<li>
	<h5><strong>Echocardiography</strong></h5>
	</li>
</ul>

<p>Determines who has pulmonary hypertension.</p>

<ul>
	<li>
	<h5><strong>Transcranial Near-Infrared Spectroscopy Or Cerebral Oximetry</strong></h5>
	</li>
</ul>

<p>This is a tool that can be used to check for low cerebral venous oxygen saturation in children with SCA.<br />
&nbsp;</p>

Treatment

<p>The anticancer medication hydroxyurea is currently being used to treat sickle cell anemia. The U.S. Food and Drug Administration (FDA) approved the use of hydroxyurea as a sickle cell anemia treatment for both adults and children in 2017.<sup><a href="#accordion">[5]</a></sup>&nbsp;Research indicates hydroxyurea:</p>

<ul>
	<li>Decreases the number of&nbsp; vaso‐occlusive crisis (VOC) /acute pain crises by 50%.</li>
	<li>Lowers the frequency of acute chest symptoms.</li>
	<li>Lessens the need for blood transfusions.</li>
	<li>Minimizes the symptoms of anemia.</li>
	<li>Hydroxyurea helps children with dactylitis, which causes painful swelling.<br />
	&nbsp;</li>
</ul>

<h5><strong>Voxelotor</strong></h5>

<p>Approved by the FDA in 2019, the medication prevents red blood cells with defective hemoglobin from becoming sickled.<sup><a href="#accordion">[5]</a></sup>&nbsp;It also prevents the RBCs from being destroyed faster than they can be replaced by the bone marrow. Voxelotor was given FDA approval as a treatment for children aged 4 and above in late 2021.<sup><a href="#accordion">[5]</a></sup><br />
&nbsp;</p>

<h5><strong>L-Glutamine Therapy</strong></h5>

<p>L-glutamine aids in the reduction of several sickle cell anemia-related problems. L-glutamine prevents sickled cells from deforming further. The FDA authorized Endari in 2017 for the treatment of adults and children aged 5 and above.<sup><a href="#accordion">[5]</a></sup><br />
&nbsp;</p>

<h5><strong>Crizanlizumab-Tmca</strong></h5>

<p>VOC/acute pain crises, which are sudden, excruciating pain flare-ups, are a reality for people with sickle cell anemia. FDA approved the drug crizanlizumab-tmca in 2019 to treat patients 16 years of age and older, as it may reduce the frequency of VOC/acute pain crises.<sup><a href="#accordion">[5]</a></sup><br />
&nbsp;</p>

<h5><strong>Home Care</strong></h5>

<p>The following at-home measures can also relieve some of the symptoms of sickle cell anemia.</p>

<ul>
	<li>Heating pads can help relieve pain.</li>
	<li>Folic acid supplements and other vitamins help make new red blood cells. These should only be taken after a doctor&rsquo;s consultation.</li>
	<li>Adequate whole-wheat cereals, fruits, and veggies should be consumed to increase RBC production.</li>
	<li>Increasing the water intake can lower the risk of sickle cell crises.</li>
	<li>Regular exercise and stress reduction might also help to lessen crises.</li>
	<li>An infection that is treated quickly may not develop into a serious problem.</li>
	<li>Support groups can also help people manage the disease.</li>
</ul>

<p><strong>Note:</strong> If you suspect that you have an infection of any kind, call your doctor right at once.<br />
&nbsp;</p>

<h5><strong>Preventing Infections</strong></h5>

<p>Penicillin is administered to children with sickle cell anemia, from between the ages of 2 months to at least 5 years of age. This protects them against life-threatening infections, such as pneumonia. Moreover, childhood vaccinations along with vaccines against meningitis, hepatitis B, pneumonia, and flu shots are administered.</p>

<p>Adults with sickle cell anemia may require lifelong penicillin if they&rsquo;ve had pneumonia or a splenectomy. Routine vaccinations are also required to prevent infections.<br />
&nbsp;</p>

<h5><strong>Blood Transfusions</strong></h5>

<p>This involves removing a patient&rsquo;s red blood cells and transfusing a healthy donor&rsquo;s RBC through a vein in a patient with sickle cell anemia. It helps increase the number of normal red blood cells, reducing symptoms and complications. Blood transfusions are usually used to prevent complications, such as stroke. However, due to the risk of excess iron, people undergoing regular transfusions also require treatment to reduce iron levels.<br />
&nbsp;</p>

<h5><strong>Bone Marrow Transplant</strong></h5>

<p>Also called a stem cell transplant, it involves replacing a patient&rsquo;s bone marrow with a healthy donor&rsquo;s. However, due to the risk associated with the procedure, it is only reserved for children with severe symptoms and complications. Currently, stem cell transplant is the only known cure for sickle cell anemia.<br />
&nbsp;</p>

<p>The condition can result in the following complications:</p>

<ul>
	<li>
	<h5><a href="https://merisehat.pk/disease/stroke"><strong>Stroke</strong></a></h5>
	</li>
</ul>

<p>A part of the brain may experience a blood flow obstruction due to sickle cells. Seizures, numbness or weakness in the arms and legs, unexpected speech difficulties, and loss of consciousness are all indications of a stroke.</p>

<p><strong>Note:</strong> You should take your child to the doctor right away if they exhibit any of these symptoms. A stroke may be fatal.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Vaso-Occlusive Crisis (VOC)</strong></h5>
	</li>
</ul>

<p>This is the most common cause of emergency room visits and hospital stays in sickle cell anemia patients. People typically experience:</p>

<ul>
	<li>Sudden intense pain</li>
	<li>Sharp or stabbing pain<br />
	&nbsp;</li>
</ul>

<p>The abdomen, lower back, arms, and legs are the most often impacted areas by VOC, but it can affect any part of the body.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Acute Chest Syndrome</strong></h5>
	</li>
</ul>

<p>This potentially fatal consequence, which manifests as chest pain, fever, and breathing difficulties, can be brought on by a lung infection or sickle cells clogging blood vessels in the lungs. That might call for immediate medical attention.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><a href="https://merisehat.pk/disease/pulmonary-hypertension"><strong>Pulmonary Hypertension</strong></a></h5>
	</li>
</ul>

<p>Individuals who have sickle cell anemia may get pulmonary hypertension. Adults are typically affected by this problem. This illness, which has a deadly outcome, frequently manifests as weariness and shortness of breath.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Organ Damage</strong></h5>
	</li>
</ul>

<p>Organs impacted by sickle cells are deprived of both blood and oxygen. Blood oxygen levels are also abnormally low in sickle cell anemia. This deficiency in oxygen-rich blood can be lethal and harm nerves and organs like the kidneys, liver, and spleen.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Splenic Sequestration</strong></h5>
	</li>
</ul>

<p>The spleen may grow as a result of a significant number of sickle cells getting stuck inside of it, which could lead to left-side abdominal pain. The consequences could be fatal. In patients with sickle cell anemia, the spleen should be periodically felt for enlargement by the parent.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Blindness</strong></h5>
	</li>
</ul>

<p>Sickle cells have the potential to obstruct the eyes&#39; small blood capillaries. This can eventually result in blindness.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Leg Ulcers</strong></h5>
	</li>
</ul>

<p>This is characterized by painful sores that don&rsquo;t heal.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><a href="https://merisehat.pk/disease/gall-stones-gall-stones-ileus-55"><strong>Gallstones</strong></a></h5>
	</li>
</ul>

<p>Bilirubin is a byproduct of the breakdown of red blood cells. Gallstones can develop if the body has a high bilirubin level.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Priapism</strong></h5>
	</li>
</ul>

<p>Men with sickle cell anemia may experience painful, long-lasting erections. In the long run, blood vessel blockage in the penis can lead to impotence.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><a href="https://merisehat.pk/disease/deep-vein-thrombosis"><strong>Deep Vein Thrombosis</strong></a></h5>
	</li>
</ul>

<p>Red blood cell sickling can lead to blood clots, which increases the chance that a clot will lodge in a deep vein&nbsp; (deep vein thrombosis) or the lung(pulmonary embolism). Both can lead to a serious infection or even death.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Pregnancy Complications</strong></h5>
	</li>
</ul>

<p>Blood clots and high blood pressure are more likely to occur during pregnancy if one has sickle cell anemia. A higher chance of miscarriage, early birth, and low birth weight are other common complications in SCA.<br />
&nbsp;</p>

<ul>
	<li>
	<h5><strong>Periodontal Infection</strong></h5>
	</li>
</ul>

<p>Multiple inflammatory pathways have linked periodontal disorders to various systemic illnesses. Because sickle cell anemia individuals are prone to infections, it is asserted that they are more vulnerable to periodontal illnesses that are connected to the existing condition of systemic inflammation.<sup><a href="#accordion">[3]</a></sup><br />
&nbsp;</p>

<p>The sickle cell gene must be carried by both parents for a child to be born with sickle cell anemia. Those of African, Mediterranean, and Middle Eastern heritage are most frequently affected by sickle cell anemia in the United States.<br />
&nbsp;</p>

<p>While there is no way of preventing the inherited condition, people who carry the sickle cell trait can undergo genetic counseling. This can help them understand their risk of having a child with sickle cell anemia. Moreover, a genetic counselor can guide them on possible treatment options.<br />
&nbsp;</p>

<p>Although the disease cannot be prevented, the following measures can reduce the risk of complications and reduce the severity of symptoms.</p>

<ul>
	<li>Staying hydrated.</li>
	<li>Healthy diet.</li>
	<li>Avoiding exposure to extreme heat or cold as it increases the risk of an acute crisis.</li>
	<li>Regular exercise but after talking with the doctor.</li>
	<li>Quitting smoking as it increases the risk of pain crises.</li>
	<li>Practicing caution when using over-the-counter pain medications as they can affect the kidneys.</li>
	<li>Vaccinations are important in preventing infections in children and adults.<br />
	&nbsp;</li>
</ul>
<quillbot-extension-portal></quillbot-extension-portal>

Key Points

<ul>
	<li>A genetic blood condition known as sickle cell anemia is characterized by unusual red blood cells with a crescent shape.</li>
	<li>A change in the HBB gene, which produces hemoglobin&#39;s beta-globin subunit, results in the illness.</li>
	<li>Fatigue, soreness, swollen hands, and feet, jaundice (yellowing of the skin and eyes), and delayed puberty in children are all signs of sickle cell anemia.</li>
	<li>Sickle cell anemia patients also run the danger of life-threatening side effects such as infections, organ damage, and stroke.</li>
	<li>Blood transfusions, bone marrow transplants, and pain management are all possible treatments for sickle cell anemia.</li>
	<li>Even though there is no cure for sickle cell anemia, developments in research and therapy have improved outcomes and quality of life for those with the disorder.</li>
</ul>

[1] McGann PT, Ware RE. Hydroxyurea for sickle cell anemia: what have we learned and what questions still remain? Curr Opin Hematol. 2011;18(3):158.

[2] Darbari DS, Wang Z, Kwak M, Hildesheim M, Nichols J, Allen D, et al. Severe painful vaso-occlusive crises and mortality in a contemporary adult sickle cell anemia cohort study. PLoS One. 2013;8(11):e79923.

[3] Sari A, Ilhan G, Akcali A. Association between periodontal inflamed surface area and serum acute phase biomarkers in patients with sickle cell anemia. Arch Oral Biol. 2022;143:105543.

[4] Biassi TP, Guerra-Shinohara EM, Moretti PNS, de Freitas Dutra V, Cabañas-Pedro AC, Mecabo G, et al. miRNA profile and disease severity in patients with sickle cell anemia. Ann Hematol. 2022;101:27–34.