Holistic care of Sickle Cell disorder

Holistic care refers to care that is total and encompassing, rather than one that is only narrowly aimed at one or two recent complications of sickle cell disorder (SCD).

We shall trace the life events of a child born with sickle cell anaemia (Hb SS) through early childhood, adolescence and adulthood.  We would then describe differences expected in the life histories of people born with sickle cell haemoglobin C disorder (Hb SC).

From the onset, it is important to realise that problems associated with SCD vary widely in severity and frequency, from person- to-person, and from time-to-time in the same person.  Some affected persons may not have any symptoms until a relatively advanced age, while others have frequent and severe symptoms from an early age.  The severity of SCD depends on the level of care available and the prevailing environmental conditions.  However, other unknown factors also play a significant role.  For example, the range and severity of problems in affected siblings, even identical twins, can vary greatly even though they share identical Hb genes and environment.

Genetic Counselling

For holistic care, it is very important for the client (affected person or family or care giver) to seek and obtain competent genetic counselling.  Good counseling will ensure that the client receives accurate, full and unbiased information about the diagnosis of SCD, where treatment can be obtained, and dispel myths, superstitious beliefs and unjustified fears.

Sickle Cell Anaemia — The first year of life

Newborn babies with sickle cell anaemia do not have any problems because their blood contains mainly fetal haemoglobin (Hb F) which is the normal Hb in the fetus (unborn child).  It stops being produced at birth, and adult haemoglobin (Hb A) or a variant haemoglobin such as Hb S or Hb C – depending on the Hb genes inherited – starts being produced instead.  Gradually, the amount of Hb F in the blood declines, such that by the age of 6 months, only a small amount of Hb F is left in the circulation.  As this happens, the protection it gives against the symptoms and signs of SCD also wanes.

This explains why a child with Hb SS is usually well and shows no signs of the disorder in the first few months of life.  By the age of 3 months, about one-sixth of affected children would have shown signs such as pallor or jaundice, or fever due to infection.  After the age of 6 months, more children would have had an infection and other typical signs including the hand-foot syndrome.

Sickle Cell Anaemia — The second to fifth years

During these early years, the child is more likely to suffer from serious bacterial infection than at any other period of life. Children living in Africa are faced with an additional risk of malaria.  Oral penicillin V 125 mg twice daily should be given from age 2 months, increased to 250mg twice daily from age 3 years to prevent pneumococcal infection. Appropriate age related doses of oral proguanil should be given once daily to prevent malaria.

The increased risk of infection occurs because the spleen does not function properly in children with SCD.  Normally, the spleen protects the child from infections by removing bacteria from the blood, and by producing substances that protect against certain infections, especially those caused by bacteria called pneumococci (doctors also call these bacteria Streptococcus pneumoniae),and to a lesser extent, infections caused by Haemophilusinfluenzae.  They are also prone to infections in their bones (osteomyelitis), particularly those caused by salmonella bacteria.

In children with SCD, many sickled cells are destroyed in the spleen, which then becomes overloaded with broken down bits of red blood cells.  The overloaded spleen becomes congested and is unable to perform its normal function properly.  To make matters worse, the blood supply to the spleen is often blocked by a traffic-jam of entangled sickled cells.  This soon leads to infarction (death of tissue due to a failed blood supply) of the spleen.  As a result, the spleen shrinks in size (hyposplenism) and becomes unable to remove bacteria from the blood or produce the substances which help to fight infection by pneumococci and Haemophilusinfluenzae bacteria.  At this early age, the body has not yet developed alternative ways of fighting off infection and so may not be able to defend itself against infection in the blood stream (septicaemia), the lungs (pneumonia), or the membranes around the brain (meningitis).

Any of these infections, particularly those caused by pneumococcal bacteria, can be fatal within a few hours, especially if there is any delay in diagnosis or treatment.  As a matter of fact, they can cause death even before the patient or parent feels they should consult a doctor, or while the doctor is still running tests to reach a diagnosis.  Consequently, efforts to prevent infections can be life-saving, especially in young children.

Preventing infections

Children with sickle cell anaemia are also particularly susceptible to osteomyelitis (bone infection).

This is usually caused by a group of bacteria called salmonella, but other kinds of bacteria such as staphylococci may also be involved.

In Africa, malaria is a frequent cause of fever, severe anaemia and death, particularly in children with SCD.  Prevention is the best policy.  It is important to remember that although people who carry the sickle cell trait (Hb AS) are able to better cope with malaria, those with SCD are particularly prone to severe illness or death.

The Hand-Foot Syndrome

Doctors refer to swelling of the hands and feet as dactylitis (inflammation).  The swelling usually affects the upper surface of the feet and the back of the hands.  The syndrome is caused by inflammation of the bones which also promotes bacterial infection (osteomyelitis) and damage to the bones of the hands and feet due to the red blood cell sickling process.  The hand-foot syndrome is the commonest site of pain crisis in young children but it is rare after the age of 4 years.

Priapism

This means an unwanted but sustained erection of the penis.  It is usually painful and is a common complication of SCD.  It is commonest from adolescence onwards, but it can occur in boys aged no more than 3 years.

Sickle Cell Anaemia – The sixth to twelfth years

In countries and regions where infections are not prevented and there is limited access to effective health care, few children with sickle cell anaemia survive to this age.  On the other hand, most children with SCD, who have access to effective health care services survive and thrive.

During this period, it may become obvious that the child is not growing as well as non-SCD children.  Bed wetting (enuresis) continues for longer than usual in many children with Hb SS and in a few of them, it may continue into adolescence.  Puberty and sexual development often occur later than in unaffected children.  Pain crises very rarely involve the hands and feet, but tend to affect the bones of the arms and legs, the chest wall, and of the back.

Avascular necrosis (AVN) of the head of the femur (thigh bone) and of the head of the humerus (upper arm bone) may also occur at this age.  The head of the femur is part of the hip joint, and the head of the humerus is part of the shoulder joint.  Avascular necrosis is more common in the hip joint than in the shoulder joint, possibly because the weight of the body places a lot more pressure on the head of the femur.  It may affect one or both hips.  It usually causes pain, limping, and a shortened limb on the affected side.

Other problems.  Only a few SCD affected people develop varying degrees of damage to their kidneys, liver or heart.

On the other hand, adults with SCD are less prone to bacterial infection and to pain crises, possibly  because, they have, over the years, discovered how best to  identify and avoid trigger factors and to recognise and treat an impending crisis early.

Survival

Life expectancy has increased and is still increasing.  In the USA in 1973, the average life span of a person with sickle cell anaemia was 14 years.  Thirty years later in 2003, it was 53 years and in 2013 about 60 years.  In Nigeria, the average life span of affected persons is also increasing among those with access to good care but inadequate statistics make it impossible to determine a figure.  More and more Nigerians with sickle cell anaemia are living longer productive lives, beyond 50 years and a few have reached 60-80 years.  Among them are doctors, nurses, lawyers, a State Commissioner, a High Court Judge and self employed business men and women.  A business woman (with Hb SS) in Lagos was 60 years old in November 2018 and the doctor (also with Hb SS) who founded the Sickle Cell Club of Calabar, decades ago, turned 70 years in early March 2019.

This is clearly an improvement over the situation many decades ago, and there is every reason to hope for a continuing steady improvement.

Haemoglobin SC Disorder

Persons with Hb SC have inherited Hb S from one parent and Hb C from the other parent.  In many respects they share a similar natural history with people with Hb SS, except that in most cases Hb SC disorder is much milder.

Relatively few people with Hb SC have symptoms and signs in early childhood.  Most do not, and many do not suspect they have SCD until much later in life.  Some may live a full life span undiagnosed and may think that the occasional mild to moderate pains are due to rheumatism.  Because they have less sickling of the red cells, the spleen does not disappear so rapidly and remains enlarged in up to half of them.  Except in a few persons and for unknown reasons, sickle cell pain crises and other complications occur less frequently than in persons with sickle cell anaemia (Hb SS).

Averagely, people with Hb SC disorder look more physically robust than people with Hb SS, and have less anaemia and jaundice.  Some are not anaemic at all and many have a normal life span.

There is, however, one complication – eye disease – that is, more common in Hb SC disorder than in Hb SS.  Eye disease, known as proliferative sickle retinopathy (PSR) causes sudden loss or impairment of vision in adolescents and adults with HbSC.  It may heal on its own with little or no treatment, and leave little or no long-term damage, or it may progress to severe complications such as retinal detachment that can cause blindness.  In such cases, the eyes may require laser treatment or surgery.

The risk of developing eye problems can be minimised by having regular eye examinations as from adolescence or early adult life, and receiving appropriate treatment supervised by an experienced eye specialist if a problem is detected.

Steps to assist longer survival include:

• adhering to prescribed preventive measures including oral hydroxyurea (hydroxycarbamide)
• reporting symptoms promptly for attention
• limiting the number of children born by affected women to no more than two
• access to dedicated Sickle Cell Clinics with SCD experienced and knowledgeable doctors and nurses

Causes of Death

In the harshest environments, the survival of affected people beyond early childhood depends on their access to relevant information and effective health care.  This in turn largely depends on their level of education and access to resources.

Infection is the major killer in childhood.  Children born into poverty rarely escape its lethal impact.  In later life, infection is a less important cause of death and severe anaemia, bone marrow embolism and failure of a major organ (e.g. kidney, heart) become more important.  Multi–organ tuberculosis is now a killer at all ages, principally because it is difficult to diagnose.

More research, aimed at enhancing quality of life and increasing survival, is required.

• Professor Akinyanju, OON, is the Chairman & Founder Sickle Cell Foundation Nigeria.

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