40m Nigerians are healthy carriers of sickle cell gene — Prof. Akinyanju

Professor Olu Akinyanju resuscitated the Sickle Cell Club Lagos in 1984 and was appointed Honorary Adviser to the World Health Organisation (WHO) on Hereditary Haemoglobin Disorders in 1985. In 1991, he founded the Federation of Sickle Cell Clubs of Nigeria and in 1994, the Sickle Cell Foundation, Nigeria. He is a past President and now, Trustee of the Nigerian Society for Haematology and Blood Transfusion and past President of the Association of Physicians of Nigeria. In this piece, he explaining, among others, the role which genetic counselling plays in sickle cell disorder management.

Nigeria, by virtue of its large population, has the largest burden of Sickle Cell Disorder (SCD) in the world. One in four or over 40 million Nigerians are healthy carriers of the Sickle Cell gene (Hb AS) while one in 50 or over 150,000 children are born each year with sickle cell anaemia (Hb SS). With such an overwhelming incidence, it is not surprising that the control of SCD is attempted by enthusiastic and well-meaning individuals and groups within the country.  However, it is sad, but true, that control of SCD is not amendable to ad hoc and seemingly simple interventions. This is because they often lack a clear understanding of the complexity of the problem and the ethics and objectives of effective genetic counselling.

Most of them imagine that all that is needed is to screen everyone and then appeal to those detected to be healthy carriers (Hb AS) or who have SCD not to marry similarly affected individuals. Some people would even propose legislation to enforce such selective marriages. Some Churches in Nigeria now go as far as refusing to marry couples who are both healthy carriers, in the mistaken belief that they would be controlling or “eradicating” sickle cell disorder. The Greek Orthodox Church in Cyprus, where thalassaemia major- a similar inherited blood haemoglobin disorder – is prevalent, tried this a few decades ago but had to abandon the practice because it only led to the denial and falsification of their Hb genotype status by affected couples. Now the Greek Orthodox Church only asks to see a certificate from intending couples stating that they have been screened and counselled. Many educated and well informed people in Nigeria with Hb AS marry each other or even people with Hb SS. In several countries, including Nigeria, Jamaica and Brazil, persons with SS have knowingly married spouses with SS or SC. In Lagos we have seen medical doctors one with Hb AA and the other with Hb AS marry spouses with Hb SS.

Incidentally, it is worth noting that selective marriage has never eradicated or significantly reduced the incidence of any genetic disorder anywhere in the world and that genetic counselling is NOT marriage counselling. Sickle cell incidence will decrease gradually over a few centuries after malaria is eradicated. This is what is happening in the USA where only 1 in 12 African-Americans are healthy carriers (Hb AS) following their relocation to a malaria free zone 4-5 centuries ago. Similarly, the Bantus in South Africa migrated over 2000 years ago to that malaria free country and only 0.3% of them have Hb AS in contrast to much higher frequencies in Bantus in malaria endemic countries of the Zambesi River.

Eradication is thus a slow process. Doing it faster would mean forceful banishment, sterilization or unthinkable genocide of all healthy Nigerian carriers of the sickle cell gene!

Sickle cell disorder should be sensitively managed within the community. Otherwise, people living with SCD or healthy carriers may feel stigmatized and be tempted to conceal, deny or falsify their haemoglobin (Hb) genotype status. This state of affairs can be counter-productive to efforts aimed at managing the disorder in the community. The importance of genetic counselling in preventing these undesirable outcomes is well established. Furthermore, genetic counselling provides people living in affected communities with information to enable them understand the nature of the disorder, its pattern of inheritance, the likelihood that their children would be affected, the options available to them and where to find help.

In counselling, the client is a person with SCD, his/her close family member or a healthy carrier of the Sickle Cell gene or that of some other haemoglobin variant eg Hb AC. The role of the counselllor is to ensure that the clients are given all the information necessary to assist them to reach their own decisions on reproductive behavior or any other course of action related to the disorder. Their decision must be respected and supported by the counselllors and confidentiality must be maintained. Failure to do so usually alienates the client to the detriment of the relationship between counselllors and clients.

Effective counselling is informative, confidential, non-directive and supportive. It requires skills that are best acquired through appropriate training and experience. Doctors who see many patients with SCD should endeavor to acquire the necessary skills and, if they have many patients, employ the services of one or more trained nurse/ counselllors.

Objectives of genetic counselling

The counselllor should:

• Ensure that the client has obtained an accurate diagnosis of his condition.
• Ensure that the client is feeling well and comfortable and not at the moment in need of medical attention.
• Ensure that the client knows what the session is about and how long it might last.
• Take a family history pertaining to sickle cell or other inherited haemoglobin disorder.
• Establish the prior awareness, knowledge and perceptions of the client about SCD and the healthy carrier state.
• Tactfully but firmly dispel myths and misinformation held by the client.
• Ensure that the client understands the inheritance of SCD and how it might affect him or his children depending on the Hb genotypes of their parents.
• Ensure that the client understands the likely clinical course and treatment needs of patients with SCD.
• Inform the client about existing facilities for health and social care and provide a referral where necessary.
• Provide the client with a spectrum of careers that are compatible with living with SCD.
• Encourage affected clients and their parents by referring to successful role models living with SCD in the community.
• Summarize the session, allow for questions, handover education materials and make appointment for a follow-up session.

Enquiries about training in genetic counselling can be obtained from the Sickle Cell Foundation, Ishaga Road, (Opposite Luth), Idi-araba, Lagos.