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  • Shaken Baby Syndrome

    Tuesday, 21 July 2015 16:28
  • Amniotic fluid problems

    Thursday, 14 May 2015 12:54
  • Choosing a pre-school

    Friday, 10 April 2015 17:50
  • Newborn reflexes

    Tuesday, 03 March 2015 15:49
  • Mastitis

    Tuesday, 03 March 2015 15:41
  • Pelvic floor exercises

    Wednesday, 11 February 2015 17:20
  • Colic

    Wednesday, 11 February 2015 17:11
  • Antenatal Classes

    Monday, 03 June 2013 09:34
  • Strap-in-the-Future

    Thursday, 30 June 2011 13:52

Sickle Cell Disease

Sickle_Cell_AnemiaSickle cell disease (SCD) is a group of genetic disorders that affect haemoglobin. Haemoglobin is the molecule in red blood cells that is responsible for transporting oxygen to all parts of the body. People with this disease have an atypical haemoglobin molecule, known as haemoglobin S. In the case of SCD, the red blood cells become hard, sticky and distorted. Healthy red blood cells are round, whereas sickle cells become crescent-shaped and look like a farm tool called a "sickle". Sickle cells also die early causing a constant shortage of red blood cells. When sickle cells travel through small blood vessels, they get stuck and clog the blood flow resulting in pain and other serious problems, such as infection, acute chest syndrome and stroke.

SCD is the most common inherited condition worldwide. Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are essential. Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East.

Causes

Sickle cell disease is caused by a mutation in the HBB gene. It is a genetic condition that is present at birth. Haemoglobin is made up of four protein sub-units, namely two subunits called alpha-globin and two subunits called beta-globin. In people with sickle cell disease, at least one or both (in the case of sickle cell anaemia) beta-globin units are replaced by haemoglobin S.

The condition is inherited in an autosomal recessive pattern. This means that both parents of a person with sickle cell disease, each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition.

Symptoms

The signs and symptoms of sickle cell disease begin during the first year of life, generally around the age of 5 months. The severity of symptoms varies from one person to another. Some people have mild symptoms while others are frequently hospitalized for more serious complications.

The disease has a number of classic features:

Sickling causes red blood cells to breakdown prematurely, which may result in anaemia. The symptoms of anaemia include shortness of breath, fatigue, paleness, rapid heart rate, and delayed growth and development in children.

The breakdown of red blood cells can also cause signs of jaundice, such as the yellowing of the skin and eyes.

Children with SCD often experience bouts of abdominal pain.

Over time, the spleen no longer works. As a result, people with SCD often have repeated infections, such as bone infections (osteomyelitis), gallbladder infections (cholecystitis), lung infections (pneumonia), and urinary tract infections (UTI)

Periodic episodes of pain occur when sickled red blood cells become stiff and inflexible, causing them to get stuck in small blood vessels. These episodes (called crises), can last for hours or days, and prevent the tissues and organs from getting oxygen rich blood. These crises commonly cause pain in the bones of the back, and the chest. In severe cases, the interruption of healthy blood flow, may require hospitalization and may result in organ damage, particularly to the brain, lungs, kidneys and spleen.

The following symptoms may result when abnormal cells get stuck in small blood vessels: Painful and prolonged erection (priapism), poor eyesight and blindness, problems involving thinking and confusion due to small strokes, and ulcers on the lower legs (in adolescents and adults).

Diagnosis

A sickle cell test (also known as Sickledex or Hgb S test) can be performed to see if you have abnormal haemoglobin in the blood that causes sickle cell disease and sickle cell trait (SCT). This takes the form of a simple blood test, allowing SCD to be diagnosed before birth or after birth. The disease is often discovered during routine newborn screening tests at the hospital.

In the case of sickle cell disease, a person has two abnormal haemoglobin S genes and has signs and complications associated with the condition. In contrast, a person with sickle cell trait, only has one abnormal gene and minimal or no symptoms. People with SCT generally live normal, healthy lives but may pass the trait on to their children. A sickle cell test is unable to distinguish between the two conditions. If a positive result is obtained, another test called haemoglobin electrophoresis will be done.

Hemoglobin electrophoresis is a laboratory technique that measures the different types of the oxygen-carrying protein (hemoglobin) in the blood. The test is able to identify disorders caused by abnormal forms of haemoglobin (haemoglobinopathy). Many different types of haemoglobin (Hb) exist. The most common ones are HbA, HbA2, HbF, HbS, HbC, Hb H, and Hb M. Healthy adults only have significant levels of HbA and HbA2.

The presence of significant levels of abnormal haemoglobin may indicate: Hemoglobin C disease, Rare haemoglobinopathy, Sickle cell anemia (is associated with abnormal levels of hbS), or Thalassemia

Treatment

Treatment options vary from one person to another depending on their symptoms and the severity of the disease. In general, the goal of treatment is to manage and control symptoms, and limit the number of painful episodes. Like all patients with chronic disease, patients with SCD are best managed in a comprehensive multi-disciplinary program of care.

Folic acid supplementation is required to help with the production of new red blood cells.

During sickle cell crises, blood transfusions may be necessary and in some cases, they may be given regularly to prevent stroke. Pain medications and plenty of fluids are needed during these episodes.

Hydroxyurea (Hydrea) is a medication that may be given to reduce the frequency of these painful episodes, as well as easing chest pain and relieving breathing difficulties. Antibiotics may also be used to prevent infections, which are common in children with the disease.

The complications of SCD are treated and managed symptomatically. These may include dialysis or kidney transplant for kidney disease, gallbladder removal in people with gallstones, surgery for eye problems, hip replacement for avascular necrosis of the hip, and wound care for leg ulcers. Because of the chronic nature and possible severity of the disease, sufferers may wish to have psychological counseling, join a support group or need treatment for overuse or abuse of pain medications

The only cure for SCD is a bone marrow or stem cell transplant. However, these treatments are not an option for most patients because it is difficult to find well-matched stem donors

It is crucial that people with SCD reduce their risk of infections. Vaccinations that are helpful in this regard include: Haemophilus influenzae vaccine (Hib), Pneumococcal conjugate vaccine (PCV), and Pneumococcal polysaccharide vaccine (PPV)

Prevention

There is currently no global cure for SCD. However there are a number of general guidelines to keep the sickle cell patient healthy and prevent or minimize serious complications. This includes being treated by a medical team that understands the disease. All newborns with SCD should be placed on daily penicillin until the age of 6 to prevent serious infection. All childhood vaccinations should be given together with the pneumococcal vaccine. Daily foliate is required to help make new red blood cells. It is essential that the patient remains adequately hydrated, avoids extreme temperatures (hot or cold), and avoids exertion or stress. Getting plenty of rest and regular check-ups are advisable.

Consider having the child with SCD wear a Medic Alert bracelet. Share information about their condition and its treatment with teachers and other caregivers.

Risk factors

Like most genes, haemoglobin genes are inherited in two sets, one from each parent:

If one parent has Sickle Cell Anemia and the other is Normal, all of the children will have sickle cell trait.

If one parent has Sickle Cell Anemia and the other has Sickle Cell trait, there is a 50% chance (1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy.

When both parents have Sickle Cell Trait, they have a 25%
chance (1 in 4) of having a baby with sickle cell disease with
each pregnancy.

Women and men with SCD should be encouraged to have the haemoglobinopathy status of their partner tested, before conception. If their partner is a carrier of, or affected by, a major haemoglobinopathy, the couple is identified as being 'at risk' and should receive appropriate counseling and advice about reproductive options.

Contact your doctor immediately if;

Patients and families should be aware of conditions that require immediate medical attention. These include fever, chest pain, shortness of breath, increasing tiredness, abdominal swelling, unusual headaches, any sudden weakness or loss of feeling, pain that does not subside with home treatment, painful erection that will not go down, or sudden changes in vision.

Prognosis

Due to greater understanding and improvements in the management of the Sickle Cell Disease, children born with SCD are able to live to reproductive age and average life expectancy is at least the mid-50s.

References

A.D.A.M., Inc. Sickle cell test. Medicine Plus. http://www.nlm.nih.gov/medlineplus/ency/article/003666.htm. Updated December 7, 2012. Accessed December 31, 2012.

Genetic Home Reference. Sickle Cell Disease. Published December 17, 2012. Reviewed august 2012. Accessed January 1, 2013.

Royal College of Obstetricians and Gynaecologists. Management of Sickle Cell Disease in Pregnancy. RCOG Green-top Guideline No.61. July 2011.

SCDAA. Research & Screening: About Sickle Cell Disease (SCD). SCDAA. http://www.sicklecelldisease.org/. Accessed January 1, 2013.

Sickle Cell Information Centre. Sickle Cell Disease. Sickle Cell Information Centre. http://scinfo.org/sickle-cell-disease. Updated April 28, 2010. Accessed January 1, 2013.

The New York Times Company. Sickle Cell Anaemia: Overview. The New York Times. http://health.nytimes.com/health/guides/disease/sickle-cell-anemia/overview.html. Published January 1, 2102. Reviewed February 2, 2012. Accessed January 1, 2013.

University of MD Medical centre. Sickle cell anaemia- All information. University of Maryland Medical Centre. http://www.umm.edu/ency/article/000527all.htm. Reviewed February 28, 2012. Accessed January 1, 2013.