Sickle cell: A misunderstood disease

When Janice Gray’s son was three years old he complained about a pain in one of his legs, but she dismissed it as probably the result of having hit the leg and when the pain had gone by the next morning she forgot all about it.

Little did she know that her son Isaiah Griffith was at that time experiencing his first sickle cell ‘crisis’ and it was something she would have to cope with for many years to come.

Latoya Marshall

“When I got my son I checked to see if he had ten toes, ten fingers, and then as he grew I made certain he could have walked, he was seeing, hearing and talking and I said ‘ok, I have a healthy son.’ So to hear he had a sickle cell condition was a shock for me and it’s something I am still dealing with,” Gray told Stabroek News in a recent interview.

It has been some months now since Gray was told that her now seven-year-old son had sickle cell disease and since then she has been struggling to come to grips with the changes that she has been forced to make in their lives.

Most shocking for her is the fact that she has most likely passed down the disease to her son. Sickle cell disease is the most common of the hereditary blood disorders.  While she knew persons in her family had the disease – a cousin actually died at an early age because of it – Gray says she was never told that the disease was hereditary and that it was likely she had it even though it had never given her a ‘crisis.’

Incidence rate unknown

Gray is yet to be screened for the disease, but because of her family history she knows she is a carrier. The fact is her son does not have sickle cell anaemia but rather just a trait (and not full-blown sickle cell) makes her think the child’s father does not have the disease. But she acknowledges that screening is important.

Like Gray many persons are not aware of the sickle cell disease and many have misconceptions about it.

It is not known how many persons in Guyana are carriers of the disease and this is an issue that the Guyana Sickle Cell/Thallassemia Association is looking into.

According to Errol London, a member of the association which became registered under the Friendly Society Act in 1997, they are advocating for a national registry in an effort to ascertain how many persons have the disease in Guyana. He pointed out that the prevalence rate is known for many other diseases in Guyana but not for sickle cell.

Referring to the disease as the “unpredictable disease” because of the various ways in which it affects individuals, he said it is hoped that research would be done locally to determine the incidence rate which would indicate whether there was need for a national effort.

The association, which joined the world in observing Sickle Cell Week the week before last, has among its goals the establishment of a sickle cell anaemia clinic and having electrophoresis screening for newborns and people with suspected sickle cell signs and symptoms.

According to the association the sickle cell disease is a genetic disorder of abnormal red pigment (haemoglobin). This cell is responsible for transporting oxygen and abnormalities in it can lead to severe complications and in some cases, premature death. In the case of sickle cell disease the red blood cells form an abnormal crescent shape.

London told Stabroek News that there are many misconceptions about the disease and he made it clear that contrary to what many believe, sickle cell is not the white cells eating the red cells, it is not leukaemia or cancer or HIV, it is not an iron deficiency, and it is not infectious or catching.

Screening

London, who himself has the sickle cell trait, has not had a crisis since he was 12. However, he has a son who has the full-blown disease and he told Stabroek News that it is important that persons are encouraged to be screened for it.

In the same manner that persons are encouraged to be tested for HIV, he said, they should be encouraged to be screened for sickle cell.

“I believe that like with HIV too, couples should be encouraged to be screened for sickle cell – not that the results would make two people in love abandon marriage – but it would prepare them for the future and what may happen to their unborn children,” London said.

He recalled that he was four years old when his first crisis came in the form of pain in his legs and hands, and he was later diagnosed with the sickle cell trait. Between then and the age of 12 he was hospitalized four times.

However, from age 12 until today he has had no more problems, and he admitted that he had even forgotten about the disease and did not regard it as something to be discussed with his partner when they were about to get married. Furthermore, no one had ever educated him about it.

But at the age of nine months his eldest son became ill and was later diagnosed with full-blown sickle cell. London said for his son to have the full-blown disease it meant that his wife had to have the trait, and upon screening this was found to be so.

“But she has never had a crisis, no problem at all, and while she would have heard about the disease it was not something she thought about,” London said.

He went on to say that persons are encouraged to have counselling when they are told they are HIV positive but the same is not done with persons who are diagnosed with sickle cell.

London emphasized, however, that the disease is not a “life sentence” and crises vary from person to person, but it was good to know about it so that it could be managed. Nevertheless, he acknowledged that some persons died as a result of the disease, and at a very early age.

“A lot of people could have sickle cell and are carriers and are not aware, because it is very prevalent among Africans and Asian people… and it is known that it is prevalent in the Caribbean,” London said.

His son is now ten years old and London said that he has been in and out of hospital since he was a baby, however, he explained that the disease is not one which robs you of a normal life although there are some precautions that need to be taken.

“You must know how to manage it… and see what triggers a crisis. We know how to manage it when it comes to our son,” he said, adding that his eight-year-old does not suffer from the disease but he would definitely be a carrier since both of his parents are.

London said as his second son grows older he would be advised to have a screening done and when he finds his prospective partner they would impress on them both to be screened.

In and out of hospital

For 27-year-old Latoya Marshall sickle cell disease has always been a part of her life as she was diagnosed with the full-blown disease at the age of nine months. Her younger sister, who is twenty-three, also has the disease.

“Growing up I was in an out of hospital and I could never have participated in many school activities as I suffered from shortness of breath and that is a crisis,” Marshall told Stabroek News.

She said at the age of five she had a spleen hysterectomy, adding that “growing up was very difficult.” “But now that I am older I better understand the disease and I am able to live a normal life,”  Marshall said. For her if the place is too hot or cold it triggers a crisis, but she manages the pain, most times in her hands or legs, with pain tablets.

Marshall, who is also a member of the association, had a situation like this about a week ago but with a lot of water and pain tablets she was okay.  Like London, Marshall said she would recommend that more screening be done, disclosing that her husband does not have the disease but it is something she discussed with him before they got married.

Not ashamed

“I am not ashamed of my condition,” she said, adding that many persons, even those in the medical field, do not understand the disease and this could lead to a lot of misconceptions.

However, she pointed out that it is indeed difficult when one has to live with the disease as “sometimes when you get the pains it is so much that you think about committing suicide.” Marshall was of the view that if persons became more sensitized then they would be better able to look for the signs of the disease.

“Look, people like to say you catch a cold in your hands or feet whenever you complain about pains, but it could be a sickle cell crisis you are experiencing,” Marshall said.

She said that with sensitization some of the stigma attached to the disease may also be removed.

“If I did not have a strong mother and I was not strong too I don’t know how I would have dealt with it,” she said.

Marshall said that she has two sons and neither suffered from the disease, but because she has the full blown disease both of them will have a trait.

She hoped that some day soon the Georgetown Public Hospital Corporation (GPHC) could do the electrophoresis screening, as at present they only do the sickle cell test which is not 100% accurate. The electrophoresis is only done at the Eureka lab at a cost of $4,500 and many persons she said could not afford this sum.

Changes

For Gray and her son the most difficult thing is the changes that must be made in their lives.

“He is a very active child and I would have to restrict his outdoor activities and it is something I don’t know how to do.

He loves football and I had bought him his gear and now he is asking me when he would be joining the club,” Gray said. This is despite the fact, “I have sat down with him and told him about the disease and he knows he has it…” she explained.

Gray also shared her observation that the cold triggers her son’s crisis, as once they were on the seawall and he started to complain about pains in his legs. Another crisis was triggered when he played in a pool while it was raining.

She said her son does not have a crisis very often, but she is always aware that it could happen at any time and is very alert and she sometimes tries not to give him too many pain tablets.

“And he would suffer from a tummy ache at times and I like many persons used to say is wind pain, not knowing it was the sickle cell,” the woman said.

Gray said she learnt about the association last year around this time when they were observing Sickle Cell Week by watching a television programme. She visits regularly and expressed herself happy for the support the association provides.

The sickle cell association is located in the Nurses’ Association building at the corner of Alexander and Charlotte Streets, but members only meet there on the second Saturday of every month at 2pm.

Persons wishing to contact a member of the association can call Dr John Dickenson on 675-9265 or Marshall on 231-2332.

According to the PubMed  Health website, which is a consumer health website produced by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH) in the US:

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.)


Causes, incidence, risk factors

Haemoglobin is a protein inside red blood cells that carries oxygen. Sickle cell anaemia is caused by an abnormal type of haemoglobin called haemoglobin S. Haemoglobin S distorts the shape of red blood cells, especially when exposed to low oxygen levels.

The distorted red blood cells are shaped like crescents or sickles. These fragile, sickle-shaped cells deliver less oxygen to the body’s tissues. They can also clog more easily in small blood vessels, and break into pieces that disrupt healthy blood flow.

Sickle cell anaemia is inherited from both parents. 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.

Someone who inherits the haemoglobin S gene from one parent and normal haemoglobin (A) from the other parent will have the sickle cell trait. People with the sickle cell trait do not have the symptoms of true sickle cell anaemia.

Symptoms

Symptoms usually don’t occur until after age 4 months.

Almost all patients with sickle cell anaemia have painful episodes (crises), which can last from hours to days. These crises can affect the bones of the back, the long bones, and the chest.

Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay.

Common symptoms include:

*      Attacks of abdominal pain

*      Bone pain

*      Breathlessness

*      Delayed growth and puberty

*      Fatigue

*      Fever

*      Paleness

*      Rapid heart rate

*     Ulcers on the lower legs (in adolescents and adults)

*      Yellowing of the eyes and skin (jaundice)

Other symptoms include:

*      Chest pain

*      Excessive thirst

*      Frequent urination

*      Painful and prolonged erection (priapism – occurs in 10 – 40% of men with the disease)

*      Poor eyesight/blindness

*      Strokes

*      Skin ulcers

Signs and tests

Tests commonly performed to diagnose and monitor patients with sickle cell anaemia include:

*  Complete blood count (CBC)

*  Haemoglobin electrophoresis

*  Sickle cell test
According to the PubMed  Health website, which is a consumer health website produced by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH) in the US:

Sickle cell anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape. (Red blood cells are normally shaped like a disc.)

Causes, incidence, risk factors

Haemoglobin is a protein inside red blood cells that carries oxygen. Sickle cell anaemia is caused by an abnormal type of haemoglobin called haemoglobin S. Haemoglobin S distorts the shape of red blood cells, especially when exposed to low oxygen levels.

The distorted red blood cells are shaped like crescents or sickles. These fragile, sickle-shaped cells deliver less oxygen to the body’s tissues. They can also clog more easily in small blood vessels, and break into pieces that disrupt healthy blood flow.

Sickle cell anaemia is inherited from both parents. 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.

Someone who inherits the haemoglobin S gene from one parent and normal haemoglobin (A) from the other parent will have the sickle cell trait. People with the sickle cell trait do not have the symptoms of true sickle cell anaemia.

Symptoms

Symptoms usually don’t occur until after age 4 months.

Almost all patients with sickle cell anaemia have painful episodes (crises), which can last from hours to days. These crises can affect the bones of the back, the long bones, and the chest.

Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay.

Common symptoms include:

*      Attacks of abdominal pain

*      Bone pain

*      Breathlessness

*      Delayed growth and puberty

*      Fatigue

*      Fever

*      Paleness

*      Rapid heart rate

*     Ulcers on the lower legs (in adolescents and adults)

*      Yellowing of the eyes and skin (jaundice)

Other symptoms include:

*      Chest pain

*      Excessive thirst

*      Frequent urination

*      Painful and prolonged erection (priapism – occurs in 10 – 40% of men with the disease)

*      Poor eyesight/blindness

*      Strokes

*      Skin ulcers

Signs and tests

Tests commonly performed to diagnose and monitor patients with sickle cell anaemia include:

*  Complete blood count (CBC)

*  Haemoglobin electrophoresis

*  Sickle cell test

Treatment

Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. They should take supplements of folic acid (essential for producing red blood cells) because red blood cells are turned over so quickly.

The purpose of treatment is to manage and control symptoms, and to limit the frequency of crises. As this is a genetic modification rather than a disease, a cure is not at this time feasible.

Patients with sickle cell disease need ongoing treatment, even when they are not having a painful crisis. They should take supplements of folic acid (essential for producing red blood cells) because red blood cells are turned over so quickly.

The purpose of treatment is to manage and control symptoms, and to limit the frequency of crises. As this is a genetic modification rather than a disease, a cure is not at this time feasible.