Blood is a body fluid in humans that delivers nutrients and oxygen to the cells and transports metabolic waste products away from those same cells. Blood cells are made in bone marrow and they constitute of Red Blood Cells (RBC’s), White Blood Cells (WBC’s), and Platelets. Any abnormality in any of these cell lines individually or combined may lead to various blood related disorders. Sickle cell disease is one of the commonest RBC disorders prevalent across the globe.  It’s unfortunate that despite being the commonest RBC disorder and the pain and suffering it brings along with it, SCD still remains a neglected disease across the world. On December 22, 2008, the United Nations General Assembly adopted a resolution recognising sickle cell disease as a public health problem. Every year, June 19 is designated as World Sickle Cell Day to raise awareness of sickle cell disease, as well as the challenges patients encounter. Keep reading to know all about this disease.

How does a person get sickle cell disease?

Normally, red blood cells are flexible and are disc-shaped that helps them to slide smoothly through the blood vessels. In people with sickle cell disorder, these blood cells are stiff and sickle or crescent shaped. Because of this stiffness, these abnormal red blood cells may get stuck inside small blood vessels which can cause organ damage and episodes of pain.

Generally, normal blood cells can live up to 120 days but sickle red blood cell live for much lesser time in circulation as they are destroyed in the spleen due to their abnormal shape. This leads to common clinical manifestations of SCD such as chronic anemia, jaundice, weakness, etc. The sickled RBC’s commonly get trapped in small blood vessels of the body leading to hemolysis, jaundice & swelled and painful joints typically called as “pain crisis” or vaso-occlussive crisis. Over a period of time the spleen becomes non-functional in these patients leaving them at risk of frequent infections.

Apart from these common manifestations, these patients are at risk of other major life threatening or life limiting complications such as Aplastic crisis (loss of bone marrow function), Splenic sequestration crisis (blood getting trapped in spleen leading to sudden and severe anemia), acute chest syndrome (presenting as pneumonia, low oxygen saturation) or stroke (either ischemic or hemorrhagic).

Sickle cell is inherited disease which occurs when two copies of mutated HBB gene one from father and one from mother are inherited in the child. Although parents are carrier of disease might be showing no symptoms but can pass the disease to their children.

Signs and Symptoms of Sickle Cell in Teenagers

Sickle cell disorder is a group of genetic red blood cells disorder that affects RBC’s. The severity of symptoms is quite variable ranging from mild anemia to various life-threatening manifestations as highlighted previously. The signs and symptoms vary from person to person. The typical age of onset of symptoms is around 6 months to 1 year. The common clinical features are as mentioned below:

  • Pain: There can be episodes of pain and may be brought by cold, stress, illness, or dehydration. Pain may last a few hours, a few days, or sometimes longer.
  • Anaemia: It can be due to lower red blood cells. General signs include – Paleness, tiredness, and dizziness, shortness of breath, irritability, fast heartbeat, and feeling of lightheaded.
  • Jaundice
  • Frequent infections
  • Aplastic crisis
  • Splenic sequestration crisis
  • Chest crisis or acute chest syndrome
  • Stroke

Supportive and symptomatic treatment

Lifestyle modifications to avoid stressful states

Routine medications: Folic acid, Penicillin, anti-malarial, Hydroxyurea, etc

Management of various crisis under close medical supervision

Curative treatment: The only curative treatment for symptomatic patients who continue to have problems despite being on optimal supportive care is Bone Marrow Transplant. The success rate for the same has improved significantly in experienced centres irrespective of donor choice reaching >80-90%.

Gene therapy/gene editing is currently being investigated and has shown promising results in initial trials analysis.

Consequences if Treatment Delayed

If these signs occur immediate care by a doctor in needed. Severe problems which can occur due to Sickle Cell Disorder can be:

  • Acute Chest Syndrome: Signs include chest pain, coughing, trouble, breathing and fever.
  • Aplastic crisis: Signs include paleness, extreme tiredness and fast heartbeat.
  • Infection: Sign can be High fever.
  • Stroke: Signs can include headache, seizure, weakness of arms and legs, speech problems, a facial droop or loss of consciousness.
  • Leg ulcers
  • Bone or joint damage
  • Gallstones
  • Kidney damage
  • Eye damage
  • Delayed Growth

To summarize, SCD is the commonest red cell disorders across the globe. The awareness about SCD is lacking both among the public and policy makers. It’s a preventable disease (by testing carrier status of eligible couples in high-risk communities). If despite the preventive measures, a child is born with SCD, he should be initiated on optimal supportive care as soon as the diagnosis is made. BMT or HSCT remains the only curative option with very successful outcomes in recent times as we await the gene therapy to be available to be used by the masses.

 

This post first appeared on The Health Site

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