Sickle cell anaemia, the deadly blood disorder

Although there are many warning signs for inherited blood disorders, sickle cell anemia is one of those that show up unexpectedly. Sickle cell disease can cause a wide range of symptoms.
A graphic illustration of how sickle cells affect normal blood circulation. Internet photo.
A graphic illustration of how sickle cells affect normal blood circulation. Internet photo.

Although there are many warning signs for inherited blood disorders, sickle cell anemia is one of those that show up unexpectedly. Sickle cell disease can cause a wide range of symptoms. These can start from a few months of age, although many children have few or no symptoms if treatment is started early on. The challenge is that a huge section of the public continues to underestimate this blood disorder.

Yet unlike common illnesses, sickle cell anemia has no conclusive cure and hope for relief lies in proper management. While this disease continues to thrive in people, the other worry is that limited awareness stifles efforts to combat it.

It is a concern, medics like Dr Osee Sebatunzi, a medical practitioner at University Teaching Hospital in Kigali (CHUK) raise.

“There is indeed an awareness problem. Many don’t know what causes sickle cell anemia or how they got it. Others think it is a totally strange disease. Such complaints may not be common in adults but it is a challenge we need to address at an early stage,” he says.

Dr Sebatunzi adds that the most disturbing situation for sicklers is the excruciating pain that rarely goes away without intervention.

“When the pain sets in it takes time for many to realise that it is actually sickle cell anemia,” he explains.

When the disease sets in

Dr Iba Mayele, an obstetrician at Doctors Plaza, Kigali, explains that symptoms of sickle cell anemia range from pain and swelling that can appear on any part of the body.

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An illustration of the symptoms of sickle cell anemia in children. / Internet photo.

“Besides these periodic pains, there could also be localised feet and hand swellings because of obstructed blood flow. Individuals with sickle cell anemia also have a problem of poor vision and many fall victim to on and off infections,” says Dr Mayele.

Sickle cell anemia occurs when a mutant hemoglobin gene is inherited from both and seemingly healthy parents.

Unlike normal red blood cells, which are smooth and flexible, sickle cells are modified into a crescent shape that lack flexibility to move about in small blood vessels. 

This inhibits regular blood flow and as a result, the surface area for carrying oxygen in the red blood cells is greatly reduced leading to chronic acute pains and sometimes susceptibility to bacterial infections.

Because survival with sickle cell anemia depends on sufficient knowledge and prevention programmes, Dr Sebatunzi maintains that sensitisation for early detection remains very crucial.

“The more people get informed about the disease, the easier they can adopt good management approaches and practices,” he adds.

Disease burden

Globally, 5 per cent of the world’s populations are carriers of either sickle cell anemia or another hemoglobin disorder and 300,000 babies with severe disorders are born each year, according to the World Health Organisation (WHO).

WHO says prevalence levels decrease to between 1 per cent and 2 per cent in North Africa and to less than 1 per cent in Southern Africa. 

In countries such as Cameroon, the Democratic Republic of Congo, Gabon, Ghana and Nigeria, the prevalence is between 20 per cent and 30 per cent while in some parts of Uganda it is as high as 45 per cent. 

Where the trait prevalence is above 20 per cent the disease affects about 2 percent of the population. 

The geographic distribution of the sickle-cell trait is very similar to that of malaria.

In Rwanda, the occurrence of sickle cell anemia is on a small scale and most people with the disease are those who moved from countries around the region, according to Dr Manelas Nkeshimana, a specialist in internal medicine at CHUK.

He explains that from the available medical records, most affected individuals migrated from either the DR Congo or Uganda.

“We all know that sickle cell anemia is an inherited condition, either they obtained it through intermarriages or it existed in the bloodline,” he explains.

Dr Nkeshimana adds that as a way to improve survival, when sickle cell anemia is detected in an individual, the whole family is screened to assess the source of the disease.

“The screening is basically to allow better management in the future and as a must when someone is found with sickle cell, it is imperative to have all the relatives screened,” he adds.

Breakthrough in sickle cell anemia research

In the event of suffering the disease, there is a high likelihood for young sicklers to suffer strokes compared to adults. As such children with sickle cell anemia could receive routine blood transfusion. Fortunately, a study released last year shows that there could be less burdensome strategies to prevent stroke through chemotherapy. 

Another research that followed children with the disorder who received a stem cell transplant from a sibling with identical, matching tissues also provided promising results.

Basing on such discoveries, scientists believe that a new oral agent that may be safe towards reducing the sickling of red blood cells could be effective.

Dr Alexis Thompson from Children’s Hospital of Chicago says that the studies address existing and new treatment methods that may have significant and practice-changing implications for patients with sickle cell disease.

“Patients with sickle cell disease face a lifetime of challenges and more research is desperately needed to address evidence gaps and improve our understanding of the best possible care for these patients,” he says.

Much as sickle cell anemia has no single cure, earlier studies show that carriers of the disease have a partial protective effect against malaria. However those who inherit both recessive genes from parents don’t have this advantage.

editorial@newtimes.co.rw

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EXPERTS SHARE TIPS

Yvan Ntwari, general practitioner
Patients with this condition always experience pain in their hands and feet because the sickle cell shaped blood cells get stuck in the small veins, preventing the good flow thus causing pain. Parents who have kids with sickle cell should not ignore any pain being felt by their children. Taking them for a check-up is the best option.

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Clement Nduwayezo, medical student
Sickle cell anemia is a genetic disorder and there is nothing that can be done to prevent it from occurring. The best approach is for the patients to be given vasodilatation to widen the blood vessels and ease blood circulation. However, the patients should be closely monitored when this procedure is used.

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Herodine Uwajeneza, medic at University Teaching Hospital of Kigali
Infections, cold weather and cold drinks as well as stress may trigger pain in people with sickle cell anemia. Therefore, avoiding them is essential. On the other hand, after receiving treatment at the hospital, a patient should be allowed to take bed rest for sometime as part of the recovery process.

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Raban Dusabimana, general practitioner at University Teaching Hospital of Kigali
There are different ways one can approach it depending on how the condition is. For instance, those with difficulty in breathing can be given supportive therapy as well as blood transfusion if needed. For those with more complicated cases may need different therapies and close monitoring.

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Imfurankunda Habimana, nurse
Sickle cell anemia always comes with a lot of pain in different parts of the body, hence painkillers should be administered. Patients of sickle cell anemia are also prone to other infections which should be treated promptly. Close monitoring from a specialist is vital to make sure the patient doesn’t develop other complications.

Compiled by Lydia Atieno

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SIGNS AND SYMPTOMS OF SICKLE CELL ANEMIA

Signs and symptoms of sickle cell anemia often don’t appear until an infant is at least 4 months old and may include:

* Anemia. Sickle cells are fragile. They break apart easily and die, leaving you without a good supply of red blood cells. Red blood cells usually live for about 120 days before they die and need to be replaced. But sickle cells die after an average of less than 20 days. This results in a lasting shortage of red blood cells (anemia). Without enough red blood cells in circulation, your body can’t get the oxygen it needs to feel energized. That’s why anemia causes fatigue.

* Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones. The pain may vary in intensity and can last for a few hours to a few weeks. Some people experience only a few episodes of pain. Others experience a dozen or more crises a year. If a crisis is severe enough, you may need to be hospitalized.

* Hand-foot syndrome. Swollen hands and feet may be the first signs of sickle cell anemia in babies. The swelling is caused by sickle-shaped red blood cells blocking blood flow out of their hands and feet.

* Frequent infections. Sickle cells can damage your spleen, an organ that fights infection. This may make you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.

* Delayed growth. Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.

* Vision problems. Some people with sickle cell anemia experience vision problems. Tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images.

When to see a doctor

Although sickle cell anemia is usually diagnosed in infancy, if you or your child develops any of the following problems, see your doctor right away or seek emergency medical care:

* Unexplained episodes of severe pain, such as pain in the abdomen, chest, bones or joints.

* Swelling in the hands or feet.

* Abdominal swelling, especially if the area is tender to touch.

* Fever. People with sickle cell anemia have an increased risk of infection, and fever can be the first sign of an infection.

* Pale skin or nail beds.

* Yellow tint to the skin or whites of the eyes.

* Any signs or symptoms of stroke. If you notice any one-sided paralysis or weakness in the face, arms or legs, confusion, trouble walking or talking, sudden vision problems or unexplained numbness, or a headache, call 911 or your local emergency number right away.

Agencies

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